Canonical Allele Identifier: CA1881758307

Gene: POMT1

Genomic Alleles

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

Transcript Alleles

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