Canonical Allele Identifier: CA1881756556

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521354C= , CM000671.2:g.131521354C=	GRCh38
NC_000009.11:g.134396741C= , CM000671.1:g.134396741C=	GRCh37
NC_000009.10:g.133386562C=	NCBI36
NG_008896.1:g.23453C=
NG_008896.2:g.23453C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1545C=	ENSP00000343034.7:p.Ile515=
ENST00000404875.7:n.2247C=
ENST00000423007.6:c.1764C=	ENSP00000404119.2:p.Ile588=
ENST00000677295.2:c.*2051C=	ENSP00000504346.2:n.*2051C=
ENST00000678264.2:c.*1890C=	ENSP00000503157.2:n.*1890C=
ENST00000682070.1:n.2172C=
ENST00000682813.1:n.2111C=
ENST00000683392.1:n.4454C=
ENST00000683712.1:n.2112C=
ENST00000683900.1:n.3607C=
ENST00000684062.1:n.2373C=
ENST00000684579.1:n.3553C=
ENST00000684679.1:n.934C=
ENST00000341012.12:c.1545C=	ENSP00000343034.7:p.Ile515=
ENST00000372220.5:c.576C=	ENSP00000361294.5:p.Ile192=
ENST00000372228.9:c.1773C=	ENSP00000361302.3:p.Ile591=
ENST00000402686.8:c.1707C= MANE Select	ENSP00000385797.4:p.Ile569=
ENST00000676640.1:c.1707C=	ENSP00000503281.1:p.Ile569=
ENST00000676803.1:c.768C=	ENSP00000503093.1:p.Ile256=
ENST00000676835.1:c.*922C=	ENSP00000502911.1:n.*922C=
ENST00000677029.1:c.1251C=	ENSP00000502936.1:p.Ile417=
ENST00000677099.1:c.*1417C=	ENSP00000504553.1:n.*1417C=
ENST00000677216.1:c.1356C=	ENSP00000503772.1:p.Ile452=
ENST00000677221.1:n.732C=
ENST00000677295.1:c.*1084C=	ENSP00000504346.1:n.*1084C=
ENST00000677444.1:c.1652C=
ENST00000677586.1:n.1074C=
ENST00000677626.1:c.1356C=	ENSP00000503552.1:p.Ile452=
ENST00000677853.1:c.*715C=	ENSP00000503488.1:n.*715C=
ENST00000678202.1:n.866C=
ENST00000678264.1:c.*1084C=	ENSP00000503157.1:n.*1084C=
ENST00000678303.1:c.1617C=	ENSP00000503696.1:p.Ile539=
ENST00000678366.1:c.*1956C=	ENSP00000504353.1:n.*1956C=
ENST00000678546.1:c.*1652C=	ENSP00000503062.1:n.*1652C=
ENST00000678548.1:c.*1779C=	ENSP00000503934.1:n.*1779C=
ENST00000678626.1:n.1543C=
ENST00000678739.1:c.*2028C=	ENSP00000503806.1:n.*2028C=
ENST00000678833.1:c.*1459C=	ENSP00000503893.1:n.*1459C=
ENST00000679023.1:c.1545C=	ENSP00000503718.1:p.Ile515=
ENST00000679076.1:c.1326C=
ENST00000679111.1:c.*463C=	ENSP00000504257.1:n.*463C=
ENST00000679189.1:c.1356C=	ENSP00000503356.1:p.Ile452=
ENST00000341012.11:c.1545C=	ENSP00000343034.7:p.Ile515=
ENST00000372220.4:c.570C=	ENSP00000361294.4:p.Ile190=
ENST00000372228.7:c.1773C=	ENSP00000361302.3:p.Ile591=
ENST00000402686.7:c.1707C=	ENSP00000385797.3:p.Ile569=
ENST00000404875.6:c.1356C=	ENSP00000384531.2:p.Ile452=
ENST00000423007.5:c.1707C=	ENSP00000404119.1:p.Ile569=
ENST00000467848.1:n.411C=
ENST00000485278.5:n.2257C=
ENST00000494883.1:n.250C=
NM_001077365.1:c.1707C=	NP_001070833.1:p.Ile569=
NM_001077366.1:c.1545C=	NP_001070834.1:p.Ile515=
NM_001136113.1:c.1707C=	NP_001129585.1:p.Ile569=
NM_001136114.1:c.1356C=	NP_001129586.1:p.Ile452=
NM_007171.3:c.1773C=	NP_009102.3:p.Ile591=
XM_005272156.1:c.1773C=	XP_005272213.1:p.Ile591=
XM_005272158.1:c.1611C=	XP_005272215.1:p.Ile537=
XM_005272159.1:c.1422C=	XP_005272216.1:p.Ile474=
XM_005272162.1:c.576C=	XP_005272219.1:p.Ile192=
XM_006716932.1:c.1422C=	XP_006716995.1:p.Ile474=
XM_011518140.1:c.1626C=	XP_011516442.1:p.Ile542=
XM_011518141.1:c.1560C=	XP_011516443.1:p.Ile520=
XM_011518142.1:c.1464C=	XP_011516444.1:p.Ile488=
XM_011518143.1:c.1458C=	XP_011516445.1:p.Ile486=
XM_011518145.1:c.1317C=	XP_011516447.1:p.Ile439=
XM_011518147.1:c.645C=	XP_011516449.1:p.Ile215=
XR_929703.1:n.1949C=
NM_001353193.1:c.1773C=	NP_001340122.1:p.Ile591=
NM_001353194.1:c.1545C=	NP_001340123.1:p.Ile515=
NM_001353195.1:c.1356C=	NP_001340124.1:p.Ile452=
NM_001353196.1:c.1617C=	NP_001340125.1:p.Ile539=
NM_001353197.1:c.1611C=	NP_001340126.1:p.Ile537=
NM_001353198.1:c.1611C=	NP_001340127.1:p.Ile537=
NM_001353199.1:c.1422C=	NP_001340128.1:p.Ile474=
NM_001353200.1:c.1251C=	NP_001340129.1:p.Ile417=
NR_148391.1:n.1757C=
NR_148392.1:n.1975C=
NR_148393.1:n.1896C=
NR_148394.1:n.1650C=
NR_148395.1:n.2048C=
NR_148396.1:n.1682C=
NR_148397.1:n.1807C=
NR_148398.1:n.1762C=
NR_148399.1:n.2288C=
NR_148400.1:n.1887C=
XM_005272162.3:c.576C=	XP_005272219.1:p.Ile192=
XM_006716932.2:c.1422C=	XP_006716995.1:p.Ile474=
XM_011518140.2:c.1626C=	XP_011516442.1:p.Ile542=
XM_011518141.2:c.1560C=	XP_011516443.1:p.Ile520=
XM_011518142.2:c.1464C=	XP_011516444.1:p.Ile488=
XM_011518143.2:c.1458C=	XP_011516445.1:p.Ile486=
XM_011518145.2:c.1317C=	XP_011516447.1:p.Ile439=
XM_017014205.2:c.576C=	XP_016869694.1:p.Ile192=
XM_024447380.1:c.576C=	XP_024303148.1:p.Ile192=
XM_024447381.1:c.882C=	XP_024303149.1:p.Ile294=
XM_024447382.1:c.576C=	XP_024303150.1:p.Ile192=
XR_001746160.2:n.1877C=
XR_001746162.2:n.2082C=
XR_001746164.1:n.1799C=
XR_001746166.2:n.2094C=
NM_001077365.2:c.1707C= MANE Select	NP_001070833.1:p.Ile569=
NM_001077366.2:c.1545C=	NP_001070834.1:p.Ile515=
NM_001136113.2:c.1707C=	NP_001129585.1:p.Ile569=
NM_001136114.2:c.1356C=	NP_001129586.1:p.Ile452=
NM_001353193.2:c.1773C=	NP_001340122.2:p.Ile591=
NM_001353194.2:c.1545C=	NP_001340123.1:p.Ile515=
NM_001353195.2:c.1356C=	NP_001340124.1:p.Ile452=
NM_001353196.2:c.1617C=	NP_001340125.1:p.Ile539=
NM_001353197.2:c.1611C=	NP_001340126.2:p.Ile537=
NM_001353198.2:c.1611C=	NP_001340127.2:p.Ile537=
NM_001353199.2:c.1422C=	NP_001340128.2:p.Ile474=
NM_001353200.2:c.1251C=	NP_001340129.1:p.Ile417=
NM_001374689.1:c.1695C=	NP_001361618.1:p.Ile565=
NM_001374690.1:c.1488C=	NP_001361619.1:p.Ile496=
NM_001374691.1:c.1356C=	NP_001361620.1:p.Ile452=
NM_001374692.1:c.1356C=	NP_001361621.1:p.Ile452=
NM_001374693.1:c.1356C=	NP_001361622.1:p.Ile452=
NM_001374695.1:c.1317C=	NP_001361624.1:p.Ile439=
NM_007171.4:c.1773C=	NP_009102.4:p.Ile591=
NR_148391.2:n.1741C=
NR_148392.2:n.1959C=
NR_148393.2:n.1880C=
NR_148394.2:n.1634C=
NR_148395.2:n.2032C=
NR_148396.2:n.1666C=
NR_148397.2:n.1791C=
NR_148398.2:n.1746C=
NR_148399.2:n.2272C=
NR_148400.2:n.1871C=