Canonical Allele Identifier: CA467424099

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397573C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522186C>A , CM000671.2:g.131522186C>A	GRCh38
NC_000009.11:g.134397573C>A , CM000671.1:g.134397573C>A	GRCh37
NC_000009.10:g.133387394C>A	NCBI36
NG_008896.1:g.24285C>A
NG_008896.2:g.24285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1803C>A	ENSP00000343034.7:p.Leu601=
ENST00000404875.7:n.2505C>A
ENST00000423007.6:c.2022C>A	ENSP00000404119.2:p.Leu674=
ENST00000677295.2:c.*2309C>A	ENSP00000504346.2:n.*2309C>A
ENST00000678264.2:c.*2148C>A	ENSP00000503157.2:n.*2148C>A
ENST00000682070.1:n.2291-16C>A
ENST00000682813.1:n.2369C>A
ENST00000683392.1:n.4573-16C>A
ENST00000683712.1:n.2370C>A
ENST00000683900.1:n.3865C>A
ENST00000684062.1:n.2631C>A
ENST00000684579.1:n.3811C>A
ENST00000684679.1:n.1192C>A
ENST00000341012.12:c.1803C>A	ENSP00000343034.7:p.Leu601=
ENST00000372220.5:c.834C>A	ENSP00000361294.5:p.Leu278=
ENST00000372228.9:c.2031C>A	ENSP00000361302.3:p.Leu677=
ENST00000402686.8:c.1965C>A MANE Select	ENSP00000385797.4:p.Leu655=
ENST00000676640.1:c.1965C>A	ENSP00000503281.1:p.Leu655=
ENST00000676803.1:c.1026C>A	ENSP00000503093.1:p.Leu342=
ENST00000676835.1:c.*1180C>A	ENSP00000502911.1:n.*1180C>A
ENST00000677029.1:c.1509C>A	ENSP00000502936.1:p.Leu503=
ENST00000677099.1:c.*1675C>A	ENSP00000504553.1:n.*1675C>A
ENST00000677216.1:c.1614C>A	ENSP00000503772.1:p.Leu538=
ENST00000677221.1:n.990C>A
ENST00000677295.1:c.*1203-16C>A	ENSP00000504346.1:n.*1203-16C>A
ENST00000677444.1:c.1910C>A
ENST00000677586.1:n.1332C>A
ENST00000677626.1:c.1614C>A	ENSP00000503552.1:p.Leu538=
ENST00000677853.1:c.*973C>A	ENSP00000503488.1:n.*973C>A
ENST00000678202.1:n.1124C>A
ENST00000678264.1:c.*1342C>A	ENSP00000503157.1:n.*1342C>A
ENST00000678303.1:c.1875C>A	ENSP00000503696.1:p.Leu625=
ENST00000678366.1:c.*2214C>A	ENSP00000504353.1:n.*2214C>A
ENST00000678546.1:c.*1910C>A	ENSP00000503062.1:n.*1910C>A
ENST00000678548.1:c.*2104C>A	ENSP00000503934.1:n.*2104C>A
ENST00000678626.1:n.1801C>A
ENST00000678739.1:c.*2147-16C>A	ENSP00000503806.1:n.*2147-16C>A
ENST00000678833.1:c.*1717C>A	ENSP00000503893.1:n.*1717C>A
ENST00000679023.1:c.1803C>A	ENSP00000503718.1:p.Leu601=
ENST00000679076.1:c.1584C>A
ENST00000679111.1:c.*721C>A	ENSP00000504257.1:n.*721C>A
ENST00000679189.1:c.1614C>A	ENSP00000503356.1:p.Leu538=
ENST00000341012.11:c.1803C>A	ENSP00000343034.7:p.Leu601=
ENST00000372220.4:c.828C>A	ENSP00000361294.4:p.Leu276=
ENST00000372228.7:c.2031C>A	ENSP00000361302.3:p.Leu677=
ENST00000402686.7:c.1965C>A	ENSP00000385797.3:p.Leu655=
ENST00000404875.6:c.1614C>A	ENSP00000384531.2:p.Leu538=
ENST00000423007.5:c.1965C>A	ENSP00000404119.1:p.Leu655=
ENST00000485278.5:n.2515C>A
ENST00000494883.1:n.508C>A
NM_001077365.1:c.1965C>A	NP_001070833.1:p.Leu655=
NM_001077366.1:c.1803C>A	NP_001070834.1:p.Leu601=
NM_001136113.1:c.1965C>A	NP_001129585.1:p.Leu655=
NM_001136114.1:c.1614C>A	NP_001129586.1:p.Leu538=
NM_007171.3:c.2031C>A	NP_009102.3:p.Leu677=
XM_005272156.1:c.2031C>A	XP_005272213.1:p.Leu677=
XM_005272158.1:c.1869C>A	XP_005272215.1:p.Leu623=
XM_005272159.1:c.1680C>A	XP_005272216.1:p.Leu560=
XM_005272162.1:c.834C>A	XP_005272219.1:p.Leu278=
XM_006716932.1:c.1680C>A	XP_006716995.1:p.Leu560=
XM_011518140.1:c.1884C>A	XP_011516442.1:p.Leu628=
XM_011518141.1:c.1818C>A	XP_011516443.1:p.Leu606=
XM_011518142.1:c.1722C>A	XP_011516444.1:p.Leu574=
XM_011518143.1:c.1716C>A	XP_011516445.1:p.Leu572=
XM_011518145.1:c.1575C>A	XP_011516447.1:p.Leu525=
XM_011518147.1:c.903C>A	XP_011516449.1:p.Leu301=
XR_929703.1:n.2207C>A
NM_001353193.1:c.2031C>A	NP_001340122.1:p.Leu677=
NM_001353194.1:c.1803C>A	NP_001340123.1:p.Leu601=
NM_001353195.1:c.1614C>A	NP_001340124.1:p.Leu538=
NM_001353196.1:c.1875C>A	NP_001340125.1:p.Leu625=
NM_001353197.1:c.1869C>A	NP_001340126.1:p.Leu623=
NM_001353198.1:c.1869C>A	NP_001340127.1:p.Leu623=
NM_001353199.1:c.1680C>A	NP_001340128.1:p.Leu560=
NM_001353200.1:c.1509C>A	NP_001340129.1:p.Leu503=
NR_148391.1:n.2015C>A
NR_148392.1:n.2233C>A
NR_148393.1:n.2154C>A
NR_148394.1:n.1908C>A
NR_148395.1:n.2306C>A
NR_148396.1:n.1940C>A
NR_148397.1:n.2065C>A
NR_148398.1:n.2020C>A
NR_148399.1:n.2546C>A
NR_148400.1:n.2145C>A
XM_005272162.3:c.834C>A	XP_005272219.1:p.Leu278=
XM_006716932.2:c.1680C>A	XP_006716995.1:p.Leu560=
XM_011518140.2:c.1884C>A	XP_011516442.1:p.Leu628=
XM_011518141.2:c.1818C>A	XP_011516443.1:p.Leu606=
XM_011518142.2:c.1722C>A	XP_011516444.1:p.Leu574=
XM_011518143.2:c.1716C>A	XP_011516445.1:p.Leu572=
XM_011518145.2:c.1575C>A	XP_011516447.1:p.Leu525=
XM_017014205.2:c.834C>A	XP_016869694.1:p.Leu278=
XM_024447380.1:c.834C>A	XP_024303148.1:p.Leu278=
XM_024447381.1:c.1140C>A	XP_024303149.1:p.Leu380=
XM_024447382.1:c.834C>A	XP_024303150.1:p.Leu278=
XR_001746160.2:n.2135C>A
XR_001746162.2:n.2340C>A
XR_001746164.1:n.2057C>A
XR_001746166.2:n.2352C>A
NM_001077365.2:c.1965C>A MANE Select	NP_001070833.1:p.Leu655=
NM_001077366.2:c.1803C>A	NP_001070834.1:p.Leu601=
NM_001136113.2:c.1965C>A	NP_001129585.1:p.Leu655=
NM_001136114.2:c.1614C>A	NP_001129586.1:p.Leu538=
NM_001353193.2:c.2031C>A	NP_001340122.2:p.Leu677=
NM_001353194.2:c.1803C>A	NP_001340123.1:p.Leu601=
NM_001353195.2:c.1614C>A	NP_001340124.1:p.Leu538=
NM_001353196.2:c.1875C>A	NP_001340125.1:p.Leu625=
NM_001353197.2:c.1869C>A	NP_001340126.2:p.Leu623=
NM_001353198.2:c.1869C>A	NP_001340127.2:p.Leu623=
NM_001353199.2:c.1680C>A	NP_001340128.2:p.Leu560=
NM_001353200.2:c.1509C>A	NP_001340129.1:p.Leu503=
NM_001374689.1:c.1953C>A	NP_001361618.1:p.Leu651=
NM_001374690.1:c.1746C>A	NP_001361619.1:p.Leu582=
NM_001374691.1:c.1614C>A	NP_001361620.1:p.Leu538=
NM_001374692.1:c.1614C>A	NP_001361621.1:p.Leu538=
NM_001374693.1:c.1614C>A	NP_001361622.1:p.Leu538=
NM_001374695.1:c.1575C>A	NP_001361624.1:p.Leu525=
NM_007171.4:c.2031C>A	NP_009102.4:p.Leu677=
NR_148391.2:n.1999C>A
NR_148392.2:n.2217C>A
NR_148393.2:n.2138C>A
NR_148394.2:n.1892C>A
NR_148395.2:n.2290C>A
NR_148396.2:n.1924C>A
NR_148397.2:n.2049C>A
NR_148398.2:n.2004C>A
NR_148399.2:n.2530C>A
NR_148400.2:n.2129C>A