Canonical Allele Identifier: CA467424049

Gene: POMT1

Linked Data

• dbSNP Id: rs749582742
• gnomAD v2: 9-134397501-G-T
• gnomAD v4: 9-131522114-G-T
• MyVariant Identifiers: chr9:g.134397501G>T (hg19) ; chr9:g.131522114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522114G>T , CM000671.2:g.131522114G>T	GRCh38
NC_000009.11:g.134397501G>T , CM000671.1:g.134397501G>T	GRCh37
NC_000009.10:g.133387322G>T	NCBI36
NG_008896.1:g.24213G>T
NG_008896.2:g.24213G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1731G>T	ENSP00000343034.7:p.Pro577=
ENST00000404875.7:n.2433G>T
ENST00000423007.6:c.1950G>T	ENSP00000404119.2:p.Pro650=
ENST00000677295.2:c.*2237G>T	ENSP00000504346.2:n.*2237G>T
ENST00000678264.2:c.*2076G>T	ENSP00000503157.2:n.*2076G>T
ENST00000682070.1:n.2291-88G>T
ENST00000682813.1:n.2297G>T
ENST00000683392.1:n.4573-88G>T
ENST00000683712.1:n.2298G>T
ENST00000683900.1:n.3793G>T
ENST00000684062.1:n.2559G>T
ENST00000684579.1:n.3739G>T
ENST00000684679.1:n.1120G>T
ENST00000341012.12:c.1731G>T	ENSP00000343034.7:p.Pro577=
ENST00000372220.5:c.762G>T	ENSP00000361294.5:p.Pro254=
ENST00000372228.9:c.1959G>T	ENSP00000361302.3:p.Pro653=
ENST00000402686.8:c.1893G>T MANE Select	ENSP00000385797.4:p.Pro631=
ENST00000676640.1:c.1893G>T	ENSP00000503281.1:p.Pro631=
ENST00000676803.1:c.954G>T	ENSP00000503093.1:p.Pro318=
ENST00000676835.1:c.*1108G>T	ENSP00000502911.1:n.*1108G>T
ENST00000677029.1:c.1437G>T	ENSP00000502936.1:p.Pro479=
ENST00000677099.1:c.*1603G>T	ENSP00000504553.1:n.*1603G>T
ENST00000677216.1:c.1542G>T	ENSP00000503772.1:p.Pro514=
ENST00000677221.1:n.918G>T
ENST00000677295.1:c.*1203-88G>T	ENSP00000504346.1:n.*1203-88G>T
ENST00000677444.1:c.1838G>T
ENST00000677586.1:n.1260G>T
ENST00000677626.1:c.1542G>T	ENSP00000503552.1:p.Pro514=
ENST00000677853.1:c.*901G>T	ENSP00000503488.1:n.*901G>T
ENST00000678202.1:n.1052G>T
ENST00000678264.1:c.*1270G>T	ENSP00000503157.1:n.*1270G>T
ENST00000678303.1:c.1803G>T	ENSP00000503696.1:p.Pro601=
ENST00000678366.1:c.*2142G>T	ENSP00000504353.1:n.*2142G>T
ENST00000678546.1:c.*1838G>T	ENSP00000503062.1:n.*1838G>T
ENST00000678548.1:c.*2032G>T	ENSP00000503934.1:n.*2032G>T
ENST00000678626.1:n.1729G>T
ENST00000678739.1:c.*2147-88G>T	ENSP00000503806.1:n.*2147-88G>T
ENST00000678833.1:c.*1645G>T	ENSP00000503893.1:n.*1645G>T
ENST00000679023.1:c.1731G>T	ENSP00000503718.1:p.Pro577=
ENST00000679076.1:c.1512G>T
ENST00000679111.1:c.*649G>T	ENSP00000504257.1:n.*649G>T
ENST00000679189.1:c.1542G>T	ENSP00000503356.1:p.Pro514=
ENST00000341012.11:c.1731G>T	ENSP00000343034.7:p.Pro577=
ENST00000372220.4:c.756G>T	ENSP00000361294.4:p.Pro252=
ENST00000372228.7:c.1959G>T	ENSP00000361302.3:p.Pro653=
ENST00000402686.7:c.1893G>T	ENSP00000385797.3:p.Pro631=
ENST00000404875.6:c.1542G>T	ENSP00000384531.2:p.Pro514=
ENST00000423007.5:c.1893G>T	ENSP00000404119.1:p.Pro631=
ENST00000485278.5:n.2443G>T
ENST00000494883.1:n.436G>T
NM_001077365.1:c.1893G>T	NP_001070833.1:p.Pro631=
NM_001077366.1:c.1731G>T	NP_001070834.1:p.Pro577=
NM_001136113.1:c.1893G>T	NP_001129585.1:p.Pro631=
NM_001136114.1:c.1542G>T	NP_001129586.1:p.Pro514=
NM_007171.3:c.1959G>T	NP_009102.3:p.Pro653=
XM_005272156.1:c.1959G>T	XP_005272213.1:p.Pro653=
XM_005272158.1:c.1797G>T	XP_005272215.1:p.Pro599=
XM_005272159.1:c.1608G>T	XP_005272216.1:p.Pro536=
XM_005272162.1:c.762G>T	XP_005272219.1:p.Pro254=
XM_006716932.1:c.1608G>T	XP_006716995.1:p.Pro536=
XM_011518140.1:c.1812G>T	XP_011516442.1:p.Pro604=
XM_011518141.1:c.1746G>T	XP_011516443.1:p.Pro582=
XM_011518142.1:c.1650G>T	XP_011516444.1:p.Pro550=
XM_011518143.1:c.1644G>T	XP_011516445.1:p.Pro548=
XM_011518145.1:c.1503G>T	XP_011516447.1:p.Pro501=
XM_011518147.1:c.831G>T	XP_011516449.1:p.Pro277=
XR_929703.1:n.2135G>T
NM_001353193.1:c.1959G>T	NP_001340122.1:p.Pro653=
NM_001353194.1:c.1731G>T	NP_001340123.1:p.Pro577=
NM_001353195.1:c.1542G>T	NP_001340124.1:p.Pro514=
NM_001353196.1:c.1803G>T	NP_001340125.1:p.Pro601=
NM_001353197.1:c.1797G>T	NP_001340126.1:p.Pro599=
NM_001353198.1:c.1797G>T	NP_001340127.1:p.Pro599=
NM_001353199.1:c.1608G>T	NP_001340128.1:p.Pro536=
NM_001353200.1:c.1437G>T	NP_001340129.1:p.Pro479=
NR_148391.1:n.1943G>T
NR_148392.1:n.2161G>T
NR_148393.1:n.2082G>T
NR_148394.1:n.1836G>T
NR_148395.1:n.2234G>T
NR_148396.1:n.1868G>T
NR_148397.1:n.1993G>T
NR_148398.1:n.1948G>T
NR_148399.1:n.2474G>T
NR_148400.1:n.2073G>T
XM_005272162.3:c.762G>T	XP_005272219.1:p.Pro254=
XM_006716932.2:c.1608G>T	XP_006716995.1:p.Pro536=
XM_011518140.2:c.1812G>T	XP_011516442.1:p.Pro604=
XM_011518141.2:c.1746G>T	XP_011516443.1:p.Pro582=
XM_011518142.2:c.1650G>T	XP_011516444.1:p.Pro550=
XM_011518143.2:c.1644G>T	XP_011516445.1:p.Pro548=
XM_011518145.2:c.1503G>T	XP_011516447.1:p.Pro501=
XM_017014205.2:c.762G>T	XP_016869694.1:p.Pro254=
XM_024447380.1:c.762G>T	XP_024303148.1:p.Pro254=
XM_024447381.1:c.1068G>T	XP_024303149.1:p.Pro356=
XM_024447382.1:c.762G>T	XP_024303150.1:p.Pro254=
XR_001746160.2:n.2063G>T
XR_001746162.2:n.2268G>T
XR_001746164.1:n.1985G>T
XR_001746166.2:n.2280G>T
NM_001077365.2:c.1893G>T MANE Select	NP_001070833.1:p.Pro631=
NM_001077366.2:c.1731G>T	NP_001070834.1:p.Pro577=
NM_001136113.2:c.1893G>T	NP_001129585.1:p.Pro631=
NM_001136114.2:c.1542G>T	NP_001129586.1:p.Pro514=
NM_001353193.2:c.1959G>T	NP_001340122.2:p.Pro653=
NM_001353194.2:c.1731G>T	NP_001340123.1:p.Pro577=
NM_001353195.2:c.1542G>T	NP_001340124.1:p.Pro514=
NM_001353196.2:c.1803G>T	NP_001340125.1:p.Pro601=
NM_001353197.2:c.1797G>T	NP_001340126.2:p.Pro599=
NM_001353198.2:c.1797G>T	NP_001340127.2:p.Pro599=
NM_001353199.2:c.1608G>T	NP_001340128.2:p.Pro536=
NM_001353200.2:c.1437G>T	NP_001340129.1:p.Pro479=
NM_001374689.1:c.1881G>T	NP_001361618.1:p.Pro627=
NM_001374690.1:c.1674G>T	NP_001361619.1:p.Pro558=
NM_001374691.1:c.1542G>T	NP_001361620.1:p.Pro514=
NM_001374692.1:c.1542G>T	NP_001361621.1:p.Pro514=
NM_001374693.1:c.1542G>T	NP_001361622.1:p.Pro514=
NM_001374695.1:c.1503G>T	NP_001361624.1:p.Pro501=
NM_007171.4:c.1959G>T	NP_009102.4:p.Pro653=
NR_148391.2:n.1927G>T
NR_148392.2:n.2145G>T
NR_148393.2:n.2066G>T
NR_148394.2:n.1820G>T
NR_148395.2:n.2218G>T
NR_148396.2:n.1852G>T
NR_148397.2:n.1977G>T
NR_148398.2:n.1932G>T
NR_148399.2:n.2458G>T
NR_148400.2:n.2057G>T