Canonical Allele Identifier: CA5293863

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2925879
• ClinVar RCV Id: RCV003783973
• dbSNP Id: rs200386368
• ExAC: 9:134397438 C / T
• gnomAD v2: 9-134397438-C-T
• gnomAD v4: 9-131522051-C-T
• MyVariant Identifiers: chr9:g.134397438C>T (hg19) ; chr9:g.131522051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522051C>T , CM000671.2:g.131522051C>T	GRCh38
NC_000009.11:g.134397438C>T , CM000671.1:g.134397438C>T	GRCh37
NC_000009.10:g.133387259C>T	NCBI36
NG_008896.1:g.24150C>T
NG_008896.2:g.24150C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1668C>T	ENSP00000343034.7:p.Ala556=
ENST00000404875.7:n.2370C>T
ENST00000423007.6:c.1887C>T	ENSP00000404119.2:p.Ala629=
ENST00000677295.2:c.*2174C>T	ENSP00000504346.2:n.*2174C>T
ENST00000678264.2:c.*2013C>T	ENSP00000503157.2:n.*2013C>T
ENST00000682070.1:n.2291-151C>T
ENST00000682813.1:n.2234C>T
ENST00000683392.1:n.4573-151C>T
ENST00000683712.1:n.2235C>T
ENST00000683900.1:n.3730C>T
ENST00000684062.1:n.2496C>T
ENST00000684579.1:n.3676C>T
ENST00000684679.1:n.1057C>T
ENST00000341012.12:c.1668C>T	ENSP00000343034.7:p.Ala556=
ENST00000372220.5:c.699C>T	ENSP00000361294.5:p.Ala233=
ENST00000372228.9:c.1896C>T	ENSP00000361302.3:p.Ala632=
ENST00000402686.8:c.1830C>T MANE Select	ENSP00000385797.4:p.Ala610=
ENST00000676640.1:c.1830C>T	ENSP00000503281.1:p.Ala610=
ENST00000676803.1:c.891C>T	ENSP00000503093.1:p.Ala297=
ENST00000676835.1:c.*1045C>T	ENSP00000502911.1:n.*1045C>T
ENST00000677029.1:c.1374C>T	ENSP00000502936.1:p.Ala458=
ENST00000677099.1:c.*1540C>T	ENSP00000504553.1:n.*1540C>T
ENST00000677216.1:c.1479C>T	ENSP00000503772.1:p.Ala493=
ENST00000677221.1:n.855C>T
ENST00000677295.1:c.*1203-151C>T	ENSP00000504346.1:n.*1203-151C>T
ENST00000677444.1:c.1775C>T
ENST00000677586.1:n.1197C>T
ENST00000677626.1:c.1479C>T	ENSP00000503552.1:p.Ala493=
ENST00000677853.1:c.*838C>T	ENSP00000503488.1:n.*838C>T
ENST00000678202.1:n.989C>T
ENST00000678264.1:c.*1207C>T	ENSP00000503157.1:n.*1207C>T
ENST00000678303.1:c.1740C>T	ENSP00000503696.1:p.Ala580=
ENST00000678366.1:c.*2079C>T	ENSP00000504353.1:n.*2079C>T
ENST00000678546.1:c.*1775C>T	ENSP00000503062.1:n.*1775C>T
ENST00000678548.1:c.*1969C>T	ENSP00000503934.1:n.*1969C>T
ENST00000678626.1:n.1666C>T
ENST00000678739.1:c.*2147-151C>T	ENSP00000503806.1:n.*2147-151C>T
ENST00000678833.1:c.*1582C>T	ENSP00000503893.1:n.*1582C>T
ENST00000679023.1:c.1668C>T	ENSP00000503718.1:p.Ala556=
ENST00000679076.1:c.1449C>T
ENST00000679111.1:c.*586C>T	ENSP00000504257.1:n.*586C>T
ENST00000679189.1:c.1479C>T	ENSP00000503356.1:p.Ala493=
ENST00000341012.11:c.1668C>T	ENSP00000343034.7:p.Ala556=
ENST00000372220.4:c.693C>T	ENSP00000361294.4:p.Ala231=
ENST00000372228.7:c.1896C>T	ENSP00000361302.3:p.Ala632=
ENST00000402686.7:c.1830C>T	ENSP00000385797.3:p.Ala610=
ENST00000404875.6:c.1479C>T	ENSP00000384531.2:p.Ala493=
ENST00000423007.5:c.1830C>T	ENSP00000404119.1:p.Ala610=
ENST00000485278.5:n.2380C>T
ENST00000494883.1:n.373C>T
NM_001077365.1:c.1830C>T	NP_001070833.1:p.Ala610=
NM_001077366.1:c.1668C>T	NP_001070834.1:p.Ala556=
NM_001136113.1:c.1830C>T	NP_001129585.1:p.Ala610=
NM_001136114.1:c.1479C>T	NP_001129586.1:p.Ala493=
NM_007171.3:c.1896C>T	NP_009102.3:p.Ala632=
XM_005272156.1:c.1896C>T	XP_005272213.1:p.Ala632=
XM_005272158.1:c.1734C>T	XP_005272215.1:p.Ala578=
XM_005272159.1:c.1545C>T	XP_005272216.1:p.Ala515=
XM_005272162.1:c.699C>T	XP_005272219.1:p.Ala233=
XM_006716932.1:c.1545C>T	XP_006716995.1:p.Ala515=
XM_011518140.1:c.1749C>T	XP_011516442.1:p.Ala583=
XM_011518141.1:c.1683C>T	XP_011516443.1:p.Ala561=
XM_011518142.1:c.1587C>T	XP_011516444.1:p.Ala529=
XM_011518143.1:c.1581C>T	XP_011516445.1:p.Ala527=
XM_011518145.1:c.1440C>T	XP_011516447.1:p.Ala480=
XM_011518147.1:c.768C>T	XP_011516449.1:p.Ala256=
XR_929703.1:n.2072C>T
NM_001353193.1:c.1896C>T	NP_001340122.1:p.Ala632=
NM_001353194.1:c.1668C>T	NP_001340123.1:p.Ala556=
NM_001353195.1:c.1479C>T	NP_001340124.1:p.Ala493=
NM_001353196.1:c.1740C>T	NP_001340125.1:p.Ala580=
NM_001353197.1:c.1734C>T	NP_001340126.1:p.Ala578=
NM_001353198.1:c.1734C>T	NP_001340127.1:p.Ala578=
NM_001353199.1:c.1545C>T	NP_001340128.1:p.Ala515=
NM_001353200.1:c.1374C>T	NP_001340129.1:p.Ala458=
NR_148391.1:n.1880C>T
NR_148392.1:n.2098C>T
NR_148393.1:n.2019C>T
NR_148394.1:n.1773C>T
NR_148395.1:n.2171C>T
NR_148396.1:n.1805C>T
NR_148397.1:n.1930C>T
NR_148398.1:n.1885C>T
NR_148399.1:n.2411C>T
NR_148400.1:n.2010C>T
XM_005272162.3:c.699C>T	XP_005272219.1:p.Ala233=
XM_006716932.2:c.1545C>T	XP_006716995.1:p.Ala515=
XM_011518140.2:c.1749C>T	XP_011516442.1:p.Ala583=
XM_011518141.2:c.1683C>T	XP_011516443.1:p.Ala561=
XM_011518142.2:c.1587C>T	XP_011516444.1:p.Ala529=
XM_011518143.2:c.1581C>T	XP_011516445.1:p.Ala527=
XM_011518145.2:c.1440C>T	XP_011516447.1:p.Ala480=
XM_017014205.2:c.699C>T	XP_016869694.1:p.Ala233=
XM_024447380.1:c.699C>T	XP_024303148.1:p.Ala233=
XM_024447381.1:c.1005C>T	XP_024303149.1:p.Ala335=
XM_024447382.1:c.699C>T	XP_024303150.1:p.Ala233=
XR_001746160.2:n.2000C>T
XR_001746162.2:n.2205C>T
XR_001746164.1:n.1922C>T
XR_001746166.2:n.2217C>T
NM_001077365.2:c.1830C>T MANE Select	NP_001070833.1:p.Ala610=
NM_001077366.2:c.1668C>T	NP_001070834.1:p.Ala556=
NM_001136113.2:c.1830C>T	NP_001129585.1:p.Ala610=
NM_001136114.2:c.1479C>T	NP_001129586.1:p.Ala493=
NM_001353193.2:c.1896C>T	NP_001340122.2:p.Ala632=
NM_001353194.2:c.1668C>T	NP_001340123.1:p.Ala556=
NM_001353195.2:c.1479C>T	NP_001340124.1:p.Ala493=
NM_001353196.2:c.1740C>T	NP_001340125.1:p.Ala580=
NM_001353197.2:c.1734C>T	NP_001340126.2:p.Ala578=
NM_001353198.2:c.1734C>T	NP_001340127.2:p.Ala578=
NM_001353199.2:c.1545C>T	NP_001340128.2:p.Ala515=
NM_001353200.2:c.1374C>T	NP_001340129.1:p.Ala458=
NM_001374689.1:c.1818C>T	NP_001361618.1:p.Ala606=
NM_001374690.1:c.1611C>T	NP_001361619.1:p.Ala537=
NM_001374691.1:c.1479C>T	NP_001361620.1:p.Ala493=
NM_001374692.1:c.1479C>T	NP_001361621.1:p.Ala493=
NM_001374693.1:c.1479C>T	NP_001361622.1:p.Ala493=
NM_001374695.1:c.1440C>T	NP_001361624.1:p.Ala480=
NM_007171.4:c.1896C>T	NP_009102.4:p.Ala632=
NR_148391.2:n.1864C>T
NR_148392.2:n.2082C>T
NR_148393.2:n.2003C>T
NR_148394.2:n.1757C>T
NR_148395.2:n.2155C>T
NR_148396.2:n.1789C>T
NR_148397.2:n.1914C>T
NR_148398.2:n.1869C>T
NR_148399.2:n.2395C>T
NR_148400.2:n.1994C>T