Canonical Allele Identifier: CA10603748

Gene: ACADM

Linked Data

• ClinVar Variation Id: 280946
• ClinVar RCV Id: RCV000286748
• dbSNP Id: rs768440594
• MyVariant Identifiers: chr1:g.76226883C>T (hg19) ; chr1:g.75761198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761198C>T , CM000663.2:g.75761198C>T	GRCh38
NC_000001.10:g.76226883C>T , CM000663.1:g.76226883C>T	GRCh37
NC_000001.9:g.75999471C>T	NCBI36
NG_007045.2:g.41841C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1022C>T MANE Select	ENSP00000359878.5:p.Ala341Val
ENST00000473018.3:n.3146C>T
ENST00000532207.6:n.2033C>T
ENST00000541113.6:c.926C>T	ENSP00000442324.2:p.Ala309Val
ENST00000679509.1:n.1984C>T
ENST00000679530.1:c.*790C>T	ENSP00000506454.1:n.*790C>T
ENST00000679615.1:n.3037C>T
ENST00000679687.1:c.584C>T	ENSP00000506598.1:p.Ala195Val
ENST00000679704.1:c.*788C>T	ENSP00000505117.1:n.*788C>T
ENST00000679709.1:c.*985C>T	ENSP00000506623.1:n.*985C>T
ENST00000679976.1:c.*606C>T	ENSP00000505565.1:n.*606C>T
ENST00000680166.1:n.4311C>T
ENST00000680315.1:n.905C>T
ENST00000680517.1:c.*410C>T	ENSP00000505803.1:n.*410C>T
ENST00000680582.1:n.1984C>T
ENST00000680613.1:c.*515C>T	ENSP00000506114.1:n.*515C>T
ENST00000680662.1:c.*936C>T	ENSP00000505080.1:n.*936C>T
ENST00000680691.1:c.*685C>T	ENSP00000506487.1:n.*685C>T
ENST00000680694.1:c.*610C>T	ENSP00000505658.1:n.*610C>T
ENST00000680743.1:c.*811C>T	ENSP00000505073.1:n.*811C>T
ENST00000680749.1:c.*307C>T	ENSP00000505122.1:n.*307C>T
ENST00000680798.1:c.*497C>T	ENSP00000505670.1:n.*497C>T
ENST00000680805.1:c.881C>T	ENSP00000505447.1:p.Ala294Val
ENST00000680844.1:c.*806C>T	ENSP00000506541.1:n.*806C>T
ENST00000680948.1:c.*889C>T	ENSP00000505441.1:n.*889C>T
ENST00000680964.1:c.*115C>T	ENSP00000505961.1:n.*115C>T
ENST00000681037.1:c.*2506C>T	ENSP00000506025.1:n.*2506C>T
ENST00000681063.1:c.*291C>T	ENSP00000506616.1:n.*291C>T
ENST00000681209.1:c.*677C>T	ENSP00000505877.1:n.*677C>T
ENST00000681278.1:n.1724C>T
ENST00000681289.1:n.5017C>T
ENST00000681361.1:c.*689C>T	ENSP00000506679.1:n.*689C>T
ENST00000681430.1:c.*115C>T	ENSP00000506301.1:n.*115C>T
ENST00000681446.1:c.*726C>T	ENSP00000506244.1:n.*726C>T
ENST00000681450.1:c.*693C>T	ENSP00000505660.1:n.*693C>T
ENST00000681548.1:c.*608C>T	ENSP00000505275.1:n.*608C>T
ENST00000681616.1:c.*681C>T	ENSP00000505111.1:n.*681C>T
ENST00000681621.1:c.*606C>T	ENSP00000505770.1:n.*606C>T
ENST00000681680.1:n.3117C>T
ENST00000681720.1:c.*477C>T	ENSP00000505438.1:n.*477C>T
ENST00000681730.1:n.1244C>T
ENST00000681790.1:c.764C>T	ENSP00000505130.1:p.Ala255Val
ENST00000681837.1:n.1638C>T
ENST00000681913.1:n.3268C>T
ENST00000681916.1:c.*790C>T	ENSP00000506477.1:n.*790C>T
ENST00000681930.1:n.3146C>T
ENST00000370834.9:c.1121C>T	ENSP00000359871.5:p.Ala374Val
ENST00000370841.8:c.1022C>T	ENSP00000359878.4:p.Ala341Val
ENST00000420607.6:c.1034C>T	ENSP00000409612.2:p.Ala345Val
ENST00000481374.1:n.295C>T
ENST00000525808.5:c.*608C>T	ENSP00000434823.1:n.*608C>T
ENST00000526129.5:c.*806C>T	ENSP00000434092.1:n.*806C>T
ENST00000526196.5:c.*790C>T	ENSP00000431953.1:n.*790C>T
ENST00000528016.1:c.160-7979C>T	ENSP00000434284.1:n.160-7979C>T
ENST00000529059.5:n.931C>T
ENST00000532207.5:n.752C>T
ENST00000534334.5:c.*763C>T	ENSP00000435584.1:n.*763C>T
ENST00000541113.5:c.914C>T	ENSP00000442324.1:p.Ala305Val
NM_000016.5:c.1022C>T	NP_000007.1:p.Ala341Val
NM_001127328.2:c.1034C>T	NP_001120800.1:p.Ala345Val
NM_001286042.1:c.914C>T	NP_001272971.1:p.Ala305Val
NM_001286043.1:c.1121C>T	NP_001272972.1:p.Ala374Val
NM_001286044.1:c.455C>T	NP_001272973.1:p.Ala152Val
NM_000016.6:c.1022C>T MANE Select	NP_000007.1:p.Ala341Val
NM_001127328.3:c.1034C>T	NP_001120800.1:p.Ala345Val
NM_001286042.2:c.914C>T	NP_001272971.1:p.Ala305Val
NM_001286043.2:c.1121C>T	NP_001272972.1:p.Ala374Val
NM_001286044.2:c.455C>T	NP_001272973.1:p.Ala152Val