Canonical Allele Identifier: CA340816082

Gene: ACADM

Linked Data

• gnomAD v4: 1-75745868-G-T
• MyVariant Identifiers: chr1:g.76211553G>T (hg19) ; chr1:g.75745868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745868G>T , CM000663.2:g.75745868G>T	GRCh38
NC_000001.10:g.76211553G>T , CM000663.1:g.76211553G>T	GRCh37
NC_000001.9:g.75984141G>T	NCBI36
NG_007045.2:g.26511G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.662G>T MANE Select	ENSP00000359878.5:p.Gly221Val
ENST00000473018.3:n.2786G>T
ENST00000532207.6:n.1551G>T
ENST00000541113.6:c.662G>T	ENSP00000442324.2:p.Gly221Val
ENST00000679509.1:n.1624G>T
ENST00000679530.1:c.*430G>T	ENSP00000506454.1:n.*430G>T
ENST00000679615.1:n.2724-3551G>T
ENST00000679687.1:c.224G>T	ENSP00000506598.1:p.Gly75Val
ENST00000679704.1:c.*428G>T	ENSP00000505117.1:n.*428G>T
ENST00000679709.1:c.*625G>T	ENSP00000506623.1:n.*625G>T
ENST00000679976.1:c.*246G>T	ENSP00000505565.1:n.*246G>T
ENST00000680166.1:n.3951G>T
ENST00000680517.1:c.*97-3551G>T	ENSP00000505803.1:n.*97-3551G>T
ENST00000680582.1:n.1624G>T
ENST00000680613.1:c.*33G>T	ENSP00000506114.1:n.*33G>T
ENST00000680662.1:c.*576G>T	ENSP00000505080.1:n.*576G>T
ENST00000680691.1:c.*325G>T	ENSP00000506487.1:n.*325G>T
ENST00000680694.1:c.*250G>T	ENSP00000505658.1:n.*250G>T
ENST00000680743.1:c.*329G>T	ENSP00000505073.1:n.*329G>T
ENST00000680749.1:c.600-3551G>T	ENSP00000505122.1:n.600-3551G>T
ENST00000680798.1:c.*184-3551G>T	ENSP00000505670.1:n.*184-3551G>T
ENST00000680805.1:c.662G>T	ENSP00000505447.1:p.Gly221Val
ENST00000680844.1:c.*446G>T	ENSP00000506541.1:n.*446G>T
ENST00000680948.1:c.*529G>T	ENSP00000505441.1:n.*529G>T
ENST00000680964.1:c.662G>T	ENSP00000505961.1:p.Gly221Val
ENST00000681037.1:c.*2146G>T	ENSP00000506025.1:n.*2146G>T
ENST00000681063.1:c.600-4583G>T	ENSP00000506616.1:n.600-4583G>T
ENST00000681209.1:c.*364-3551G>T	ENSP00000505877.1:n.*364-3551G>T
ENST00000681278.1:n.1019G>T
ENST00000681289.1:n.4657G>T
ENST00000681361.1:c.*329G>T	ENSP00000506679.1:n.*329G>T
ENST00000681430.1:c.662G>T	ENSP00000506301.1:p.Gly221Val
ENST00000681446.1:c.*244G>T	ENSP00000506244.1:n.*244G>T
ENST00000681450.1:c.*333G>T	ENSP00000505660.1:n.*333G>T
ENST00000681548.1:c.*248G>T	ENSP00000505275.1:n.*248G>T
ENST00000681616.1:c.*368-3551G>T	ENSP00000505111.1:n.*368-3551G>T
ENST00000681621.1:c.*246G>T	ENSP00000505770.1:n.*246G>T
ENST00000681680.1:n.2757G>T
ENST00000681720.1:c.*117G>T	ENSP00000505438.1:n.*117G>T
ENST00000681730.1:n.884G>T
ENST00000681790.1:c.404G>T	ENSP00000505130.1:p.Gly135Val
ENST00000681837.1:n.1278G>T
ENST00000681913.1:n.2786G>T
ENST00000681916.1:c.*430G>T	ENSP00000506477.1:n.*430G>T
ENST00000681930.1:n.2786G>T
ENST00000370834.9:c.761G>T	ENSP00000359871.5:p.Gly254Val
ENST00000370841.8:c.662G>T	ENSP00000359878.4:p.Gly221Val
ENST00000420607.6:c.674G>T	ENSP00000409612.2:p.Gly225Val
ENST00000525808.5:c.*248G>T	ENSP00000434823.1:n.*248G>T
ENST00000526129.5:c.*446G>T	ENSP00000434092.1:n.*446G>T
ENST00000526196.5:c.*430G>T	ENSP00000431953.1:n.*430G>T
ENST00000526930.1:n.435G>T
ENST00000529059.5:n.571G>T
ENST00000530953.6:c.*159G>T	ENSP00000431372.1:n.*159G>T
ENST00000532207.5:n.392G>T
ENST00000532509.5:c.*426G>T	ENSP00000432522.1:n.*426G>T
ENST00000534334.5:c.*246G>T	ENSP00000435584.1:n.*246G>T
ENST00000541113.5:c.554G>T	ENSP00000442324.1:p.Gly185Val
NM_000016.5:c.662G>T	NP_000007.1:p.Gly221Val
NM_001127328.2:c.674G>T	NP_001120800.1:p.Gly225Val
NM_001286042.1:c.554G>T	NP_001272971.1:p.Gly185Val
NM_001286043.1:c.761G>T	NP_001272972.1:p.Gly254Val
NM_001286044.1:c.95G>T	NP_001272973.1:p.Gly32Val
NM_000016.6:c.662G>T MANE Select	NP_000007.1:p.Gly221Val
NM_001127328.3:c.674G>T	NP_001120800.1:p.Gly225Val
NM_001286042.2:c.554G>T	NP_001272971.1:p.Gly185Val
NM_001286043.2:c.761G>T	NP_001272972.1:p.Gly254Val
NM_001286044.2:c.95G>T	NP_001272973.1:p.Gly32Val