Canonical Allele Identifier: CA375309871

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390844T>G (hg19) ; chr9:g.131515457T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515457T>G , CM000671.2:g.131515457T>G	GRCh38
NC_000009.11:g.134390844T>G , CM000671.1:g.134390844T>G	GRCh37
NC_000009.10:g.133380665T>G	NCBI36
NG_008896.1:g.17556T>G
NG_008896.2:g.17556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1045T>G	ENSP00000343034.7:p.Ser349Ala
ENST00000404875.7:n.1747T>G
ENST00000423007.6:c.1264T>G	ENSP00000404119.2:p.Ser422Ala
ENST00000677295.2:c.*1551T>G	ENSP00000504346.2:n.*1551T>G
ENST00000678264.2:c.*1390T>G	ENSP00000503157.2:n.*1390T>G
ENST00000682070.1:n.1672T>G
ENST00000682539.1:c.32T>G
ENST00000682813.1:n.1472T>G
ENST00000683392.1:n.3954T>G
ENST00000683712.1:n.1612T>G
ENST00000683900.1:n.3107T>G
ENST00000684062.1:n.1873T>G
ENST00000684579.1:n.3053T>G
ENST00000341012.12:c.1045T>G	ENSP00000343034.7:p.Ser349Ala
ENST00000372220.5:c.76T>G	ENSP00000361294.5:p.Ser26Ala
ENST00000372228.9:c.1273T>G	ENSP00000361302.3:p.Ser425Ala
ENST00000402686.8:c.1207T>G MANE Select	ENSP00000385797.4:p.Ser403Ala
ENST00000676640.1:c.1207T>G	ENSP00000503281.1:p.Ser403Ala
ENST00000676803.1:c.382T>G	ENSP00000503093.1:p.Ser128Ala
ENST00000676835.1:c.*422T>G	ENSP00000502911.1:n.*422T>G
ENST00000677029.1:c.751T>G	ENSP00000502936.1:p.Ser251Ala
ENST00000677099.1:c.*917T>G	ENSP00000504553.1:n.*917T>G
ENST00000677216.1:c.856T>G	ENSP00000503772.1:p.Ser286Ala
ENST00000677293.1:c.382T>G	ENSP00000504278.1:p.Ser128Ala
ENST00000677295.1:c.*584T>G	ENSP00000504346.1:n.*584T>G
ENST00000677444.1:c.1013T>G
ENST00000677586.1:n.688T>G
ENST00000677626.1:c.856T>G	ENSP00000503552.1:p.Ser286Ala
ENST00000677677.1:n.1167T>G
ENST00000677853.1:c.*215T>G	ENSP00000503488.1:n.*215T>G
ENST00000677944.1:c.469T>G
ENST00000678264.1:c.*584T>G	ENSP00000503157.1:n.*584T>G
ENST00000678303.1:c.1117T>G	ENSP00000503696.1:p.Ser373Ala
ENST00000678366.1:c.*1456T>G	ENSP00000504353.1:n.*1456T>G
ENST00000678546.1:c.*1152T>G	ENSP00000503062.1:n.*1152T>G
ENST00000678548.1:c.*1279T>G	ENSP00000503934.1:n.*1279T>G
ENST00000678626.1:n.904T>G
ENST00000678733.1:c.288T>G
ENST00000678739.1:c.*1533T>G	ENSP00000503806.1:n.*1533T>G
ENST00000678795.1:n.294T>G
ENST00000678833.1:c.*654T>G	ENSP00000503893.1:n.*654T>G
ENST00000678942.1:c.387T>G	ENSP00000504690.1:n.387T>G
ENST00000679023.1:c.1045T>G	ENSP00000503718.1:p.Ser349Ala
ENST00000679076.1:c.826T>G
ENST00000679111.1:c.1207T>G	ENSP00000504257.1:p.Ser403Ala
ENST00000679189.1:c.856T>G	ENSP00000503356.1:p.Ser286Ala
ENST00000341012.11:c.1045T>G	ENSP00000343034.7:p.Ser349Ala
ENST00000372228.7:c.1273T>G	ENSP00000361302.3:p.Ser425Ala
ENST00000402686.7:c.1207T>G	ENSP00000385797.3:p.Ser403Ala
ENST00000404875.6:c.856T>G	ENSP00000384531.2:p.Ser286Ala
ENST00000423007.5:c.1207T>G	ENSP00000404119.1:p.Ser403Ala
ENST00000485278.5:n.1762T>G
NM_001077365.1:c.1207T>G	NP_001070833.1:p.Ser403Ala
NM_001077366.1:c.1045T>G	NP_001070834.1:p.Ser349Ala
NM_001136113.1:c.1207T>G	NP_001129585.1:p.Ser403Ala
NM_001136114.1:c.856T>G	NP_001129586.1:p.Ser286Ala
NM_007171.3:c.1273T>G	NP_009102.3:p.Ser425Ala
XM_005272156.1:c.1273T>G	XP_005272213.1:p.Ser425Ala
XM_005272158.1:c.1111T>G	XP_005272215.1:p.Ser371Ala
XM_005272159.1:c.922T>G	XP_005272216.1:p.Ser308Ala
XM_005272162.1:c.76T>G	XP_005272219.1:p.Ser26Ala
XM_006716932.1:c.922T>G	XP_006716995.1:p.Ser308Ala
XM_011518140.1:c.1126T>G	XP_011516442.1:p.Ser376Ala
XM_011518141.1:c.1060T>G	XP_011516443.1:p.Ser354Ala
XM_011518142.1:c.964T>G	XP_011516444.1:p.Ser322Ala
XM_011518143.1:c.958T>G	XP_011516445.1:p.Ser320Ala
XM_011518144.1:c.1273T>G	XP_011516446.1:p.Ser425Ala
XM_011518145.1:c.817T>G	XP_011516447.1:p.Ser273Ala
XM_011518146.1:c.958T>G	XP_011516448.1:p.Ser320Ala
XR_929703.1:n.1449T>G
NM_001353193.1:c.1273T>G	NP_001340122.1:p.Ser425Ala
NM_001353194.1:c.1045T>G	NP_001340123.1:p.Ser349Ala
NM_001353195.1:c.856T>G	NP_001340124.1:p.Ser286Ala
NM_001353196.1:c.1117T>G	NP_001340125.1:p.Ser373Ala
NM_001353197.1:c.1111T>G	NP_001340126.1:p.Ser371Ala
NM_001353198.1:c.1111T>G	NP_001340127.1:p.Ser371Ala
NM_001353199.1:c.922T>G	NP_001340128.1:p.Ser308Ala
NM_001353200.1:c.751T>G	NP_001340129.1:p.Ser251Ala
NR_148391.1:n.1257T>G
NR_148392.1:n.1475T>G
NR_148393.1:n.1257T>G
NR_148394.1:n.1150T>G
NR_148395.1:n.1409T>G
NR_148396.1:n.1043T>G
NR_148397.1:n.1307T>G
NR_148398.1:n.1262T>G
NR_148399.1:n.1649T>G
NR_148400.1:n.1248T>G
XM_005272162.3:c.76T>G	XP_005272219.1:p.Ser26Ala
XM_006716932.2:c.922T>G	XP_006716995.1:p.Ser308Ala
XM_011518140.2:c.1126T>G	XP_011516442.1:p.Ser376Ala
XM_011518141.2:c.1060T>G	XP_011516443.1:p.Ser354Ala
XM_011518142.2:c.964T>G	XP_011516444.1:p.Ser322Ala
XM_011518143.2:c.958T>G	XP_011516445.1:p.Ser320Ala
XM_011518145.2:c.817T>G	XP_011516447.1:p.Ser273Ala
XM_017014205.2:c.76T>G	XP_016869694.1:p.Ser26Ala
XM_024447380.1:c.76T>G	XP_024303148.1:p.Ser26Ala
XM_024447381.1:c.382T>G	XP_024303149.1:p.Ser128Ala
XM_024447382.1:c.76T>G	XP_024303150.1:p.Ser26Ala
XR_001746160.2:n.1377T>G
XR_001746162.2:n.1443T>G
XR_001746164.1:n.1160T>G
XR_001746166.2:n.1594T>G
NM_001077365.2:c.1207T>G MANE Select	NP_001070833.1:p.Ser403Ala
NM_001077366.2:c.1045T>G	NP_001070834.1:p.Ser349Ala
NM_001136113.2:c.1207T>G	NP_001129585.1:p.Ser403Ala
NM_001136114.2:c.856T>G	NP_001129586.1:p.Ser286Ala
NM_001353193.2:c.1273T>G	NP_001340122.2:p.Ser425Ala
NM_001353194.2:c.1045T>G	NP_001340123.1:p.Ser349Ala
NM_001353195.2:c.856T>G	NP_001340124.1:p.Ser286Ala
NM_001353196.2:c.1117T>G	NP_001340125.1:p.Ser373Ala
NM_001353197.2:c.1111T>G	NP_001340126.2:p.Ser371Ala
NM_001353198.2:c.1111T>G	NP_001340127.2:p.Ser371Ala
NM_001353199.2:c.922T>G	NP_001340128.2:p.Ser308Ala
NM_001353200.2:c.751T>G	NP_001340129.1:p.Ser251Ala
NM_001374689.1:c.1195T>G	NP_001361618.1:p.Ser399Ala
NM_001374690.1:c.1207T>G	NP_001361619.1:p.Ser403Ala
NM_001374691.1:c.856T>G	NP_001361620.1:p.Ser286Ala
NM_001374692.1:c.856T>G	NP_001361621.1:p.Ser286Ala
NM_001374693.1:c.856T>G	NP_001361622.1:p.Ser286Ala
NM_001374695.1:c.817T>G	NP_001361624.1:p.Ser273Ala
NM_007171.4:c.1273T>G	NP_009102.4:p.Ser425Ala
NR_148391.2:n.1241T>G
NR_148392.2:n.1459T>G
NR_148393.2:n.1241T>G
NR_148394.2:n.1134T>G
NR_148395.2:n.1393T>G
NR_148396.2:n.1027T>G
NR_148397.2:n.1291T>G
NR_148398.2:n.1246T>G
NR_148399.2:n.1633T>G
NR_148400.2:n.1232T>G