Canonical Allele Identifier: CA467423808

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396741C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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