Canonical Allele Identifier: CA467424167

Gene: POMT1

Linked Data

• dbSNP Id: rs1159286282
• gnomAD v2: 9-134398361-C-T
• gnomAD v3: 9-131522974-C-T
• gnomAD v4: 9-131522974-C-T
• MyVariant Identifiers: chr9:g.134398361C>T (hg19) ; chr9:g.131522974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522974C>T , CM000671.2:g.131522974C>T	GRCh38
NC_000009.11:g.134398361C>T , CM000671.1:g.134398361C>T	GRCh37
NC_000009.10:g.133388182C>T	NCBI36
NG_008896.1:g.25073C>T
NG_008896.2:g.25073C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1884C>T	ENSP00000343034.7:p.Ala628=
ENST00000404875.7:n.2586C>T
ENST00000423007.6:c.2103C>T	ENSP00000404119.2:p.Ala701=
ENST00000677295.2:c.*2390C>T	ENSP00000504346.2:n.*2390C>T
ENST00000678264.2:c.*2229C>T	ENSP00000503157.2:n.*2229C>T
ENST00000682070.1:n.2356C>T
ENST00000682639.1:c.43C>T
ENST00000682813.1:n.2443C>T
ENST00000683231.1:c.43C>T
ENST00000683392.1:n.4638C>T
ENST00000683712.1:n.2451C>T
ENST00000683900.1:n.3946C>T
ENST00000684062.1:n.2712C>T
ENST00000684399.1:c.43C>T
ENST00000684579.1:n.3892C>T
ENST00000341012.12:c.1884C>T	ENSP00000343034.7:p.Ala628=
ENST00000372220.5:c.915C>T	ENSP00000361294.5:p.Ala305=
ENST00000372228.9:c.2112C>T	ENSP00000361302.3:p.Ala704=
ENST00000402686.8:c.2046C>T MANE Select	ENSP00000385797.4:p.Ala682=
ENST00000676640.1:c.2046C>T	ENSP00000503281.1:p.Ala682=
ENST00000676803.1:c.1107C>T	ENSP00000503093.1:p.Ala369=
ENST00000676835.1:c.*1261C>T	ENSP00000502911.1:n.*1261C>T
ENST00000677029.1:c.1590C>T	ENSP00000502936.1:p.Ala530=
ENST00000677099.1:c.*1756C>T	ENSP00000504553.1:n.*1756C>T
ENST00000677216.1:c.1695C>T	ENSP00000503772.1:p.Ala565=
ENST00000677221.1:n.1071C>T
ENST00000677295.1:c.*1268C>T	ENSP00000504346.1:n.*1268C>T
ENST00000677444.1:c.1991C>T
ENST00000677586.1:n.1413C>T
ENST00000677626.1:c.1695C>T	ENSP00000503552.1:p.Ala565=
ENST00000677853.1:c.*1054C>T	ENSP00000503488.1:n.*1054C>T
ENST00000678264.1:c.*1423C>T	ENSP00000503157.1:n.*1423C>T
ENST00000678303.1:c.1956C>T	ENSP00000503696.1:p.Ala652=
ENST00000678366.1:c.*2295C>T	ENSP00000504353.1:n.*2295C>T
ENST00000678546.1:c.*1991C>T	ENSP00000503062.1:n.*1991C>T
ENST00000678548.1:c.*2185C>T	ENSP00000503934.1:n.*2185C>T
ENST00000678626.1:n.1882C>T
ENST00000678739.1:c.*2212C>T	ENSP00000503806.1:n.*2212C>T
ENST00000678833.1:c.*1798C>T	ENSP00000503893.1:n.*1798C>T
ENST00000679023.1:c.1884C>T	ENSP00000503718.1:p.Ala628=
ENST00000679076.1:c.1665C>T
ENST00000679111.1:c.*802C>T	ENSP00000504257.1:n.*802C>T
ENST00000679189.1:c.1695C>T	ENSP00000503356.1:p.Ala565=
ENST00000341012.11:c.1884C>T	ENSP00000343034.7:p.Ala628=
ENST00000372220.4:c.909C>T	ENSP00000361294.4:p.Ala303=
ENST00000372228.7:c.2112C>T	ENSP00000361302.3:p.Ala704=
ENST00000402686.7:c.2046C>T	ENSP00000385797.3:p.Ala682=
ENST00000404875.6:c.1695C>T	ENSP00000384531.2:p.Ala565=
ENST00000423007.5:c.2046C>T	ENSP00000404119.1:p.Ala682=
ENST00000485278.5:n.2596C>T
NM_001077365.1:c.2046C>T	NP_001070833.1:p.Ala682=
NM_001077366.1:c.1884C>T	NP_001070834.1:p.Ala628=
NM_001136113.1:c.2046C>T	NP_001129585.1:p.Ala682=
NM_001136114.1:c.1695C>T	NP_001129586.1:p.Ala565=
NM_007171.3:c.2112C>T	NP_009102.3:p.Ala704=
XM_005272156.1:c.2112C>T	XP_005272213.1:p.Ala704=
XM_005272158.1:c.1950C>T	XP_005272215.1:p.Ala650=
XM_005272159.1:c.1761C>T	XP_005272216.1:p.Ala587=
XM_005272162.1:c.915C>T	XP_005272219.1:p.Ala305=
XM_006716932.1:c.1761C>T	XP_006716995.1:p.Ala587=
XM_011518140.1:c.1965C>T	XP_011516442.1:p.Ala655=
XM_011518141.1:c.1899C>T	XP_011516443.1:p.Ala633=
XM_011518142.1:c.1803C>T	XP_011516444.1:p.Ala601=
XM_011518143.1:c.1797C>T	XP_011516445.1:p.Ala599=
XM_011518145.1:c.1656C>T	XP_011516447.1:p.Ala552=
XM_011518147.1:c.984C>T	XP_011516449.1:p.Ala328=
XR_929703.1:n.2288C>T
NM_001353193.1:c.2112C>T	NP_001340122.1:p.Ala704=
NM_001353194.1:c.1884C>T	NP_001340123.1:p.Ala628=
NM_001353195.1:c.1695C>T	NP_001340124.1:p.Ala565=
NM_001353196.1:c.1956C>T	NP_001340125.1:p.Ala652=
NM_001353197.1:c.1950C>T	NP_001340126.1:p.Ala650=
NM_001353198.1:c.1950C>T	NP_001340127.1:p.Ala650=
NM_001353199.1:c.1761C>T	NP_001340128.1:p.Ala587=
NM_001353200.1:c.1590C>T	NP_001340129.1:p.Ala530=
NR_148391.1:n.2096C>T
NR_148392.1:n.2314C>T
NR_148393.1:n.2235C>T
NR_148394.1:n.1989C>T
NR_148395.1:n.2387C>T
NR_148396.1:n.2021C>T
NR_148397.1:n.2146C>T
NR_148398.1:n.2101C>T
NR_148399.1:n.2627C>T
NR_148400.1:n.2226C>T
XM_005272162.3:c.915C>T	XP_005272219.1:p.Ala305=
XM_006716932.2:c.1761C>T	XP_006716995.1:p.Ala587=
XM_011518140.2:c.1965C>T	XP_011516442.1:p.Ala655=
XM_011518141.2:c.1899C>T	XP_011516443.1:p.Ala633=
XM_011518142.2:c.1803C>T	XP_011516444.1:p.Ala601=
XM_011518143.2:c.1797C>T	XP_011516445.1:p.Ala599=
XM_011518145.2:c.1656C>T	XP_011516447.1:p.Ala552=
XM_017014205.2:c.915C>T	XP_016869694.1:p.Ala305=
XM_024447380.1:c.915C>T	XP_024303148.1:p.Ala305=
XM_024447381.1:c.1221C>T	XP_024303149.1:p.Ala407=
XM_024447382.1:c.915C>T	XP_024303150.1:p.Ala305=
XR_001746160.2:n.2216C>T
XR_001746162.2:n.2421C>T
XR_001746164.1:n.2138C>T
XR_001746166.2:n.2433C>T
NM_001077365.2:c.2046C>T MANE Select	NP_001070833.1:p.Ala682=
NM_001077366.2:c.1884C>T	NP_001070834.1:p.Ala628=
NM_001136113.2:c.2046C>T	NP_001129585.1:p.Ala682=
NM_001136114.2:c.1695C>T	NP_001129586.1:p.Ala565=
NM_001353193.2:c.2112C>T	NP_001340122.2:p.Ala704=
NM_001353194.2:c.1884C>T	NP_001340123.1:p.Ala628=
NM_001353195.2:c.1695C>T	NP_001340124.1:p.Ala565=
NM_001353196.2:c.1956C>T	NP_001340125.1:p.Ala652=
NM_001353197.2:c.1950C>T	NP_001340126.2:p.Ala650=
NM_001353198.2:c.1950C>T	NP_001340127.2:p.Ala650=
NM_001353199.2:c.1761C>T	NP_001340128.2:p.Ala587=
NM_001353200.2:c.1590C>T	NP_001340129.1:p.Ala530=
NM_001374689.1:c.2034C>T	NP_001361618.1:p.Ala678=
NM_001374690.1:c.1827C>T	NP_001361619.1:p.Ala609=
NM_001374691.1:c.1695C>T	NP_001361620.1:p.Ala565=
NM_001374692.1:c.1695C>T	NP_001361621.1:p.Ala565=
NM_001374693.1:c.1695C>T	NP_001361622.1:p.Ala565=
NM_001374695.1:c.1656C>T	NP_001361624.1:p.Ala552=
NM_007171.4:c.2112C>T	NP_009102.4:p.Ala704=
NR_148391.2:n.2080C>T
NR_148392.2:n.2298C>T
NR_148393.2:n.2219C>T
NR_148394.2:n.1973C>T
NR_148395.2:n.2371C>T
NR_148396.2:n.2005C>T
NR_148397.2:n.2130C>T
NR_148398.2:n.2085C>T
NR_148399.2:n.2611C>T
NR_148400.2:n.2210C>T