Canonical Allele Identifier: CA340689334
Community Standard Title: NM_032291.4(SGIP1):c.811C>T (p.Pro271Ser)
Gene: SGIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.66679749C>T , CM000663.2:g.66679749C>T GRCh38
NC_000001.10:g.67145432C>T , CM000663.1:g.67145432C>T GRCh37
NC_000001.9:g.66918020C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032291.4:c.811C>T MANE Select NP_115667.2:p.Pro271Ser
ENST00000371037.9:c.811C>T MANE Select ENSP00000360076.3:p.Pro271Ser
NM_001308203.1:c.715C>T NP_001295132.1:p.Pro239Ser
NM_001308203.2:c.715C>T NP_001295132.1:p.Pro239Ser
NM_001350217.1:c.823C>T NP_001337146.1:p.Pro275Ser
NM_001350217.2:c.823C>T NP_001337146.1:p.Pro275Ser
NM_001350218.1:c.739C>T NP_001337147.1:p.Pro247Ser
NM_001350218.2:c.739C>T NP_001337147.1:p.Pro247Ser
NM_001376534.1:c.811C>T NP_001363463.1:p.Pro271Ser
NM_001376535.1:c.811C>T NP_001363464.1:p.Pro271Ser
NM_001376536.1:c.715C>T NP_001363465.1:p.Pro239Ser
NM_001376537.1:c.739C>T NP_001363466.1:p.Pro247Ser
NM_001376538.1:c.823C>T NP_001363467.1:p.Pro275Ser
NM_001376539.1:c.811C>T NP_001363468.1:p.Pro271Ser
NM_001376540.1:c.811C>T NP_001363469.1:p.Pro271Ser
NM_001376541.1:c.739C>T NP_001363470.1:p.Pro247Ser
NM_001376542.1:c.739C>T NP_001363471.1:p.Pro247Ser
NM_001376543.1:c.739C>T NP_001363472.1:p.Pro247Ser
NM_001376544.1:c.739C>T NP_001363473.1:p.Pro247Ser
NM_001376545.1:c.739C>T NP_001363474.1:p.Pro247Ser
NM_001376546.1:c.823C>T NP_001363475.1:p.Pro275Ser
NM_001376547.1:c.787C>T NP_001363476.1:p.Pro263Ser
NM_001376548.1:c.787C>T NP_001363477.1:p.Pro263Ser
NM_001376549.1:c.787C>T NP_001363478.1:p.Pro263Ser
NM_001376550.1:c.787C>T NP_001363479.1:p.Pro263Ser
NM_001376551.1:c.715C>T NP_001363480.1:p.Pro239Ser
NM_001376552.1:c.715C>T NP_001363481.1:p.Pro239Ser
NM_001376554.1:c.715C>T NP_001363483.1:p.Pro239Ser
NM_001376555.1:c.715C>T NP_001363484.1:p.Pro239Ser
NM_001376556.1:c.739C>T NP_001363485.1:p.Pro247Ser
NM_001376557.1:c.787C>T NP_001363486.1:p.Pro263Ser
NM_032291.2:c.811C>T NP_115667.2:p.Pro271Ser
NM_032291.3:c.811C>T NP_115667.2:p.Pro271Ser
ENST00000237247.10:c.823C>T ENSP00000237247.6:p.Pro275Ser
ENST00000371037.8:c.811C>T ENSP00000360076.3:p.Pro271Ser
ENST00000371039.5:c.715C>T ENSP00000360078.1:p.Pro239Ser
ENST00000424320.6:c.721C>T ENSP00000410439.2:p.Pro241Ser
ENST00000435165.3:c.715C>T ENSP00000395525.3:p.Pro239Ser
ENST00000468286.6:n.1131C>T
ENST00000480548.5:n.328C>T
ENST00000480548.6:c.*252C>T ENSP00000508227.1:n.*252C>T
ENST00000681971.1:c.787C>T ENSP00000507684.1:p.Pro263Ser
ENST00000682054.1:c.715C>T ENSP00000508116.1:p.Pro239Ser
ENST00000682150.1:c.*252C>T ENSP00000507628.1:n.*252C>T
ENST00000682270.1:c.*647C>T ENSP00000507298.1:n.*647C>T
ENST00000682293.1:c.715C>T ENSP00000506836.1:p.Pro239Ser
ENST00000682416.1:c.787C>T ENSP00000507515.1:p.Pro263Ser
ENST00000682419.1:c.*417C>T ENSP00000508169.1:n.*417C>T
ENST00000682476.1:c.787C>T ENSP00000507853.1:p.Pro263Ser
ENST00000682519.1:c.*252C>T ENSP00000507084.1:n.*252C>T
ENST00000682707.1:c.787C>T ENSP00000506779.1:p.Pro263Ser
ENST00000682762.1:c.739C>T ENSP00000507231.1:p.Pro247Ser
ENST00000682816.1:c.*317C>T ENSP00000507764.1:n.*317C>T
ENST00000682894.1:n.2239C>T
ENST00000682901.1:c.715C>T ENSP00000507264.1:p.Pro239Ser
ENST00000682938.1:c.715C>T ENSP00000507426.1:p.Pro239Ser
ENST00000682981.1:c.*317C>T ENSP00000507465.1:n.*317C>T
ENST00000683067.1:c.*317C>T ENSP00000507132.1:n.*317C>T
ENST00000683207.1:c.*719C>T ENSP00000507840.1:n.*719C>T
ENST00000683257.1:c.715C>T ENSP00000507967.1:p.Pro239Ser
ENST00000683291.1:c.715C>T ENSP00000507400.1:p.Pro239Ser
ENST00000683311.1:c.*252C>T ENSP00000506974.1:n.*252C>T
ENST00000683499.1:c.787C>T ENSP00000506830.1:p.Pro263Ser
ENST00000683581.1:c.715C>T ENSP00000507528.1:p.Pro239Ser
ENST00000683604.1:c.*317C>T ENSP00000508028.1:n.*317C>T
ENST00000684083.1:c.715C>T ENSP00000506802.1:p.Pro239Ser
ENST00000684168.1:c.787C>T ENSP00000507495.1:p.Pro263Ser
ENST00000684178.1:c.787C>T ENSP00000507159.1:p.Pro263Ser
ENST00000684539.1:c.715C>T ENSP00000507311.1:p.Pro239Ser
ENST00000684651.1:c.892C>T ENSP00000507629.1:p.Pro298Ser
ENST00000684664.1:c.715C>T ENSP00000508234.1:p.Pro239Ser
ENST00000684750.1:c.*317C>T ENSP00000507164.1:n.*317C>T
ENST00000684751.1:c.715C>T ENSP00000507133.1:p.Pro239Ser
XM_005271264.3:c.823C>T XP_005271321.1:p.Pro275Ser
XM_005271265.3:c.787C>T XP_005271322.1:p.Pro263Ser
XM_005271266.3:c.715C>T XP_005271323.1:p.Pro239Ser
XM_005271268.3:c.739C>T XP_005271325.1:p.Pro247Ser
XM_005271270.3:c.715C>T XP_005271327.1:p.Pro239Ser
XM_005271270.4:c.715C>T XP_005271327.1:p.Pro239Ser
XM_006710961.2:c.823C>T XP_006711024.1:p.Pro275Ser
XM_006710962.2:c.823C>T XP_006711025.1:p.Pro275Ser
XM_006710963.2:c.811C>T XP_006711026.1:p.Pro271Ser
XM_006710964.2:c.811C>T XP_006711027.1:p.Pro271Ser
XM_006710965.2:c.799C>T XP_006711028.1:p.Pro267Ser
XM_006710966.2:c.823C>T XP_006711029.1:p.Pro275Ser
XM_006710967.2:c.811C>T XP_006711030.1:p.Pro271Ser
XM_006710968.2:c.739C>T XP_006711031.1:p.Pro247Ser
XM_006710969.2:c.739C>T XP_006711032.1:p.Pro247Ser
XM_006710971.2:c.823C>T XP_006711034.1:p.Pro275Ser
XM_006710972.2:c.823C>T XP_006711035.1:p.Pro275Ser
XM_006710973.2:c.799C>T XP_006711036.1:p.Pro267Ser
XM_006710974.2:c.715C>T XP_006711037.1:p.Pro239Ser
XM_011542286.1:c.823C>T XP_011540588.1:p.Pro275Ser
XM_011542287.1:c.823C>T XP_011540589.1:p.Pro275Ser
XM_011542288.1:c.811C>T XP_011540590.1:p.Pro271Ser
XM_011542289.1:c.808C>T XP_011540591.1:p.Pro270Ser
XM_011542290.1:c.808C>T XP_011540592.1:p.Pro270Ser
XM_011542291.1:c.808C>T XP_011540593.1:p.Pro270Ser
XM_011542292.1:c.808C>T XP_011540594.1:p.Pro270Ser
XM_011542293.1:c.715C>T XP_011540595.1:p.Pro239Ser
XM_011542294.1:c.112C>T XP_011540596.1:p.Pro38Ser
XM_011542295.1:c.823C>T XP_011540597.1:p.Pro275Ser
XM_017002505.1:c.811C>T XP_016857994.1:p.Pro271Ser
XM_017002506.1:c.811C>T XP_016857995.1:p.Pro271Ser
XM_017002507.1:c.808C>T XP_016857996.1:p.Pro270Ser
XM_017002508.1:c.808C>T XP_016857997.1:p.Pro270Ser
XM_017002509.1:c.787C>T XP_016857998.1:p.Pro263Ser
XM_017002510.1:c.787C>T XP_016857999.1:p.Pro263Ser
XM_017002511.1:c.811C>T XP_016858000.1:p.Pro271Ser
XM_017002512.1:c.811C>T XP_016858001.1:p.Pro271Ser
XM_017002513.1:c.808C>T XP_016858002.1:p.Pro270Ser
XM_017002514.1:c.739C>T XP_016858003.1:p.Pro247Ser
XM_017002515.1:c.715C>T XP_016858004.1:p.Pro239Ser
XM_017002516.1:c.715C>T XP_016858005.1:p.Pro239Ser
XM_017002517.1:c.811C>T XP_016858006.1:p.Pro271Ser
XM_017002518.1:c.739C>T XP_016858007.1:p.Pro247Ser
XM_017002519.1:c.739C>T XP_016858008.1:p.Pro247Ser
XM_017002520.1:c.727C>T XP_016858009.1:p.Pro243Ser
XM_017002521.1:c.739C>T XP_016858010.1:p.Pro247Ser
XM_017002522.1:c.739C>T XP_016858011.1:p.Pro247Ser
XM_017002523.1:c.739C>T XP_016858012.1:p.Pro247Ser
XM_017002524.1:c.787C>T XP_016858013.1:p.Pro263Ser
XM_017002525.2:c.787C>T XP_016858014.1:p.Pro263Ser
XM_017002526.1:c.787C>T XP_016858015.1:p.Pro263Ser
XM_017002527.1:c.787C>T XP_016858016.1:p.Pro263Ser
XM_017002528.1:c.715C>T XP_016858017.1:p.Pro239Ser
XM_017002529.1:c.823C>T XP_016858018.1:p.Pro275Ser
XM_017002530.1:c.799C>T XP_016858019.1:p.Pro267Ser
XM_017002532.1:c.727C>T XP_016858021.1:p.Pro243Ser
XM_017002533.1:c.787C>T XP_016858022.1:p.Pro263Ser
XM_017002534.1:c.715C>T XP_016858023.1:p.Pro239Ser
XM_017002535.1:c.715C>T XP_016858024.1:p.Pro239Ser
XM_017002536.1:c.739C>T XP_016858025.1:p.Pro247Ser
XM_017002537.1:c.715C>T XP_016858026.1:p.Pro239Ser
XM_024450227.1:c.811C>T XP_024305995.1:p.Pro271Ser
XR_001737483.1:n.1048C>T