Canonical Allele Identifier: CA340818064

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226912A>C (hg19) ; chr1:g.75761227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761227A>C , CM000663.2:g.75761227A>C	GRCh38
NC_000001.10:g.76226912A>C , CM000663.1:g.76226912A>C	GRCh37
NC_000001.9:g.75999500A>C	NCBI36
NG_007045.2:g.41870A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1051A>C MANE Select	ENSP00000359878.5:p.Thr351Pro
ENST00000473018.3:n.3175A>C
ENST00000532207.6:n.2062A>C
ENST00000541113.6:c.955A>C	ENSP00000442324.2:p.Thr319Pro
ENST00000679509.1:n.2013A>C
ENST00000679530.1:c.*819A>C	ENSP00000506454.1:n.*819A>C
ENST00000679615.1:n.3066A>C
ENST00000679687.1:c.613A>C	ENSP00000506598.1:p.Thr205Pro
ENST00000679704.1:c.*817A>C	ENSP00000505117.1:n.*817A>C
ENST00000679709.1:c.*1014A>C	ENSP00000506623.1:n.*1014A>C
ENST00000679976.1:c.*635A>C	ENSP00000505565.1:n.*635A>C
ENST00000680166.1:n.4340A>C
ENST00000680315.1:n.934A>C
ENST00000680517.1:c.*439A>C	ENSP00000505803.1:n.*439A>C
ENST00000680582.1:n.2013A>C
ENST00000680613.1:c.*544A>C	ENSP00000506114.1:n.*544A>C
ENST00000680662.1:c.*965A>C	ENSP00000505080.1:n.*965A>C
ENST00000680691.1:c.*714A>C	ENSP00000506487.1:n.*714A>C
ENST00000680694.1:c.*639A>C	ENSP00000505658.1:n.*639A>C
ENST00000680743.1:c.*840A>C	ENSP00000505073.1:n.*840A>C
ENST00000680749.1:c.*336A>C	ENSP00000505122.1:n.*336A>C
ENST00000680798.1:c.*526A>C	ENSP00000505670.1:n.*526A>C
ENST00000680805.1:c.910A>C	ENSP00000505447.1:p.Thr304Pro
ENST00000680844.1:c.*835A>C	ENSP00000506541.1:n.*835A>C
ENST00000680948.1:c.*918A>C	ENSP00000505441.1:n.*918A>C
ENST00000680964.1:c.*144A>C	ENSP00000505961.1:n.*144A>C
ENST00000681037.1:c.*2535A>C	ENSP00000506025.1:n.*2535A>C
ENST00000681063.1:c.*320A>C	ENSP00000506616.1:n.*320A>C
ENST00000681209.1:c.*706A>C	ENSP00000505877.1:n.*706A>C
ENST00000681278.1:n.1753A>C
ENST00000681289.1:n.5046A>C
ENST00000681361.1:c.*718A>C	ENSP00000506679.1:n.*718A>C
ENST00000681430.1:c.*144A>C	ENSP00000506301.1:n.*144A>C
ENST00000681446.1:c.*755A>C	ENSP00000506244.1:n.*755A>C
ENST00000681450.1:c.*722A>C	ENSP00000505660.1:n.*722A>C
ENST00000681548.1:c.*637A>C	ENSP00000505275.1:n.*637A>C
ENST00000681616.1:c.*710A>C	ENSP00000505111.1:n.*710A>C
ENST00000681621.1:c.*635A>C	ENSP00000505770.1:n.*635A>C
ENST00000681680.1:n.3146A>C
ENST00000681720.1:c.*506A>C	ENSP00000505438.1:n.*506A>C
ENST00000681730.1:n.1273A>C
ENST00000681790.1:c.793A>C	ENSP00000505130.1:p.Thr265Pro
ENST00000681837.1:n.1667A>C
ENST00000681913.1:n.3297A>C
ENST00000681916.1:c.*819A>C	ENSP00000506477.1:n.*819A>C
ENST00000681930.1:n.3175A>C
ENST00000370834.9:c.1150A>C	ENSP00000359871.5:p.Thr384Pro
ENST00000370841.8:c.1051A>C	ENSP00000359878.4:p.Thr351Pro
ENST00000420607.6:c.1063A>C	ENSP00000409612.2:p.Thr355Pro
ENST00000481374.1:n.324A>C
ENST00000525808.5:c.*637A>C	ENSP00000434823.1:n.*637A>C
ENST00000526129.5:c.*835A>C	ENSP00000434092.1:n.*835A>C
ENST00000526196.5:c.*819A>C	ENSP00000431953.1:n.*819A>C
ENST00000528016.1:c.160-7950A>C	ENSP00000434284.1:n.160-7950A>C
ENST00000529059.5:n.960A>C
ENST00000534334.5:c.*792A>C	ENSP00000435584.1:n.*792A>C
ENST00000541113.5:c.943A>C	ENSP00000442324.1:p.Thr315Pro
NM_000016.5:c.1051A>C	NP_000007.1:p.Thr351Pro
NM_001127328.2:c.1063A>C	NP_001120800.1:p.Thr355Pro
NM_001286042.1:c.943A>C	NP_001272971.1:p.Thr315Pro
NM_001286043.1:c.1150A>C	NP_001272972.1:p.Thr384Pro
NM_001286044.1:c.484A>C	NP_001272973.1:p.Thr162Pro
NM_000016.6:c.1051A>C MANE Select	NP_000007.1:p.Thr351Pro
NM_001127328.3:c.1063A>C	NP_001120800.1:p.Thr355Pro
NM_001286042.2:c.943A>C	NP_001272971.1:p.Thr315Pro
NM_001286043.2:c.1150A>C	NP_001272972.1:p.Thr384Pro
NM_001286044.2:c.484A>C	NP_001272973.1:p.Thr162Pro