Canonical Allele Identifier: CA467424054

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522123-G-C
• MyVariant Identifiers: chr9:g.134397510G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522123G>C , CM000671.2:g.131522123G>C	GRCh38
NC_000009.11:g.134397510G>C , CM000671.1:g.134397510G>C	GRCh37
NC_000009.10:g.133387331G>C	NCBI36
NG_008896.1:g.24222G>C
NG_008896.2:g.24222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1740G>C	ENSP00000343034.7:p.Leu580=
ENST00000404875.7:n.2442G>C
ENST00000423007.6:c.1959G>C	ENSP00000404119.2:p.Leu653=
ENST00000677295.2:c.*2246G>C	ENSP00000504346.2:n.*2246G>C
ENST00000678264.2:c.*2085G>C	ENSP00000503157.2:n.*2085G>C
ENST00000682070.1:n.2291-79G>C
ENST00000682813.1:n.2306G>C
ENST00000683392.1:n.4573-79G>C
ENST00000683712.1:n.2307G>C
ENST00000683900.1:n.3802G>C
ENST00000684062.1:n.2568G>C
ENST00000684579.1:n.3748G>C
ENST00000684679.1:n.1129G>C
ENST00000341012.12:c.1740G>C	ENSP00000343034.7:p.Leu580=
ENST00000372220.5:c.771G>C	ENSP00000361294.5:p.Leu257=
ENST00000372228.9:c.1968G>C	ENSP00000361302.3:p.Leu656=
ENST00000402686.8:c.1902G>C MANE Select	ENSP00000385797.4:p.Leu634=
ENST00000676640.1:c.1902G>C	ENSP00000503281.1:p.Leu634=
ENST00000676803.1:c.963G>C	ENSP00000503093.1:p.Leu321=
ENST00000676835.1:c.*1117G>C	ENSP00000502911.1:n.*1117G>C
ENST00000677029.1:c.1446G>C	ENSP00000502936.1:p.Leu482=
ENST00000677099.1:c.*1612G>C	ENSP00000504553.1:n.*1612G>C
ENST00000677216.1:c.1551G>C	ENSP00000503772.1:p.Leu517=
ENST00000677221.1:n.927G>C
ENST00000677295.1:c.*1203-79G>C	ENSP00000504346.1:n.*1203-79G>C
ENST00000677444.1:c.1847G>C
ENST00000677586.1:n.1269G>C
ENST00000677626.1:c.1551G>C	ENSP00000503552.1:p.Leu517=
ENST00000677853.1:c.*910G>C	ENSP00000503488.1:n.*910G>C
ENST00000678202.1:n.1061G>C
ENST00000678264.1:c.*1279G>C	ENSP00000503157.1:n.*1279G>C
ENST00000678303.1:c.1812G>C	ENSP00000503696.1:p.Leu604=
ENST00000678366.1:c.*2151G>C	ENSP00000504353.1:n.*2151G>C
ENST00000678546.1:c.*1847G>C	ENSP00000503062.1:n.*1847G>C
ENST00000678548.1:c.*2041G>C	ENSP00000503934.1:n.*2041G>C
ENST00000678626.1:n.1738G>C
ENST00000678739.1:c.*2147-79G>C	ENSP00000503806.1:n.*2147-79G>C
ENST00000678833.1:c.*1654G>C	ENSP00000503893.1:n.*1654G>C
ENST00000679023.1:c.1740G>C	ENSP00000503718.1:p.Leu580=
ENST00000679076.1:c.1521G>C
ENST00000679111.1:c.*658G>C	ENSP00000504257.1:n.*658G>C
ENST00000679189.1:c.1551G>C	ENSP00000503356.1:p.Leu517=
ENST00000341012.11:c.1740G>C	ENSP00000343034.7:p.Leu580=
ENST00000372220.4:c.765G>C	ENSP00000361294.4:p.Leu255=
ENST00000372228.7:c.1968G>C	ENSP00000361302.3:p.Leu656=
ENST00000402686.7:c.1902G>C	ENSP00000385797.3:p.Leu634=
ENST00000404875.6:c.1551G>C	ENSP00000384531.2:p.Leu517=
ENST00000423007.5:c.1902G>C	ENSP00000404119.1:p.Leu634=
ENST00000485278.5:n.2452G>C
ENST00000494883.1:n.445G>C
NM_001077365.1:c.1902G>C	NP_001070833.1:p.Leu634=
NM_001077366.1:c.1740G>C	NP_001070834.1:p.Leu580=
NM_001136113.1:c.1902G>C	NP_001129585.1:p.Leu634=
NM_001136114.1:c.1551G>C	NP_001129586.1:p.Leu517=
NM_007171.3:c.1968G>C	NP_009102.3:p.Leu656=
XM_005272156.1:c.1968G>C	XP_005272213.1:p.Leu656=
XM_005272158.1:c.1806G>C	XP_005272215.1:p.Leu602=
XM_005272159.1:c.1617G>C	XP_005272216.1:p.Leu539=
XM_005272162.1:c.771G>C	XP_005272219.1:p.Leu257=
XM_006716932.1:c.1617G>C	XP_006716995.1:p.Leu539=
XM_011518140.1:c.1821G>C	XP_011516442.1:p.Leu607=
XM_011518141.1:c.1755G>C	XP_011516443.1:p.Leu585=
XM_011518142.1:c.1659G>C	XP_011516444.1:p.Leu553=
XM_011518143.1:c.1653G>C	XP_011516445.1:p.Leu551=
XM_011518145.1:c.1512G>C	XP_011516447.1:p.Leu504=
XM_011518147.1:c.840G>C	XP_011516449.1:p.Leu280=
XR_929703.1:n.2144G>C
NM_001353193.1:c.1968G>C	NP_001340122.1:p.Leu656=
NM_001353194.1:c.1740G>C	NP_001340123.1:p.Leu580=
NM_001353195.1:c.1551G>C	NP_001340124.1:p.Leu517=
NM_001353196.1:c.1812G>C	NP_001340125.1:p.Leu604=
NM_001353197.1:c.1806G>C	NP_001340126.1:p.Leu602=
NM_001353198.1:c.1806G>C	NP_001340127.1:p.Leu602=
NM_001353199.1:c.1617G>C	NP_001340128.1:p.Leu539=
NM_001353200.1:c.1446G>C	NP_001340129.1:p.Leu482=
NR_148391.1:n.1952G>C
NR_148392.1:n.2170G>C
NR_148393.1:n.2091G>C
NR_148394.1:n.1845G>C
NR_148395.1:n.2243G>C
NR_148396.1:n.1877G>C
NR_148397.1:n.2002G>C
NR_148398.1:n.1957G>C
NR_148399.1:n.2483G>C
NR_148400.1:n.2082G>C
XM_005272162.3:c.771G>C	XP_005272219.1:p.Leu257=
XM_006716932.2:c.1617G>C	XP_006716995.1:p.Leu539=
XM_011518140.2:c.1821G>C	XP_011516442.1:p.Leu607=
XM_011518141.2:c.1755G>C	XP_011516443.1:p.Leu585=
XM_011518142.2:c.1659G>C	XP_011516444.1:p.Leu553=
XM_011518143.2:c.1653G>C	XP_011516445.1:p.Leu551=
XM_011518145.2:c.1512G>C	XP_011516447.1:p.Leu504=
XM_017014205.2:c.771G>C	XP_016869694.1:p.Leu257=
XM_024447380.1:c.771G>C	XP_024303148.1:p.Leu257=
XM_024447381.1:c.1077G>C	XP_024303149.1:p.Leu359=
XM_024447382.1:c.771G>C	XP_024303150.1:p.Leu257=
XR_001746160.2:n.2072G>C
XR_001746162.2:n.2277G>C
XR_001746164.1:n.1994G>C
XR_001746166.2:n.2289G>C
NM_001077365.2:c.1902G>C MANE Select	NP_001070833.1:p.Leu634=
NM_001077366.2:c.1740G>C	NP_001070834.1:p.Leu580=
NM_001136113.2:c.1902G>C	NP_001129585.1:p.Leu634=
NM_001136114.2:c.1551G>C	NP_001129586.1:p.Leu517=
NM_001353193.2:c.1968G>C	NP_001340122.2:p.Leu656=
NM_001353194.2:c.1740G>C	NP_001340123.1:p.Leu580=
NM_001353195.2:c.1551G>C	NP_001340124.1:p.Leu517=
NM_001353196.2:c.1812G>C	NP_001340125.1:p.Leu604=
NM_001353197.2:c.1806G>C	NP_001340126.2:p.Leu602=
NM_001353198.2:c.1806G>C	NP_001340127.2:p.Leu602=
NM_001353199.2:c.1617G>C	NP_001340128.2:p.Leu539=
NM_001353200.2:c.1446G>C	NP_001340129.1:p.Leu482=
NM_001374689.1:c.1890G>C	NP_001361618.1:p.Leu630=
NM_001374690.1:c.1683G>C	NP_001361619.1:p.Leu561=
NM_001374691.1:c.1551G>C	NP_001361620.1:p.Leu517=
NM_001374692.1:c.1551G>C	NP_001361621.1:p.Leu517=
NM_001374693.1:c.1551G>C	NP_001361622.1:p.Leu517=
NM_001374695.1:c.1512G>C	NP_001361624.1:p.Leu504=
NM_007171.4:c.1968G>C	NP_009102.4:p.Leu656=
NR_148391.2:n.1936G>C
NR_148392.2:n.2154G>C
NR_148393.2:n.2075G>C
NR_148394.2:n.1829G>C
NR_148395.2:n.2227G>C
NR_148396.2:n.1861G>C
NR_148397.2:n.1986G>C
NR_148398.2:n.1941G>C
NR_148399.2:n.2467G>C
NR_148400.2:n.2066G>C