Canonical Allele Identifier: CA340816559

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215129C>A (hg19) ; chr1:g.75749444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749444C>A , CM000663.2:g.75749444C>A	GRCh38
NC_000001.10:g.76215129C>A , CM000663.1:g.76215129C>A	GRCh37
NC_000001.9:g.75987717C>A	NCBI36
NG_007045.2:g.30087C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.734C>A MANE Select	ENSP00000359878.5:p.Ser245Ter
ENST00000473018.3:n.2858C>A
ENST00000532207.6:n.1623C>A
ENST00000541113.6:c.734C>A	ENSP00000442324.2:p.Ser245Ter
ENST00000679509.1:n.1696C>A
ENST00000679530.1:c.*502C>A	ENSP00000506454.1:n.*502C>A
ENST00000679615.1:n.2749C>A
ENST00000679687.1:c.296C>A	ENSP00000506598.1:p.Ser99Ter
ENST00000679704.1:c.*500C>A	ENSP00000505117.1:n.*500C>A
ENST00000679709.1:c.*697C>A	ENSP00000506623.1:n.*697C>A
ENST00000679976.1:c.*318C>A	ENSP00000505565.1:n.*318C>A
ENST00000680166.1:n.4023C>A
ENST00000680517.1:c.*122C>A	ENSP00000505803.1:n.*122C>A
ENST00000680582.1:n.1696C>A
ENST00000680613.1:c.*105C>A	ENSP00000506114.1:n.*105C>A
ENST00000680662.1:c.*648C>A	ENSP00000505080.1:n.*648C>A
ENST00000680691.1:c.*397C>A	ENSP00000506487.1:n.*397C>A
ENST00000680694.1:c.*322C>A	ENSP00000505658.1:n.*322C>A
ENST00000680743.1:c.*401C>A	ENSP00000505073.1:n.*401C>A
ENST00000680749.1:c.*19C>A	ENSP00000505122.1:n.*19C>A
ENST00000680798.1:c.*209C>A	ENSP00000505670.1:n.*209C>A
ENST00000680805.1:c.709-1007C>A	ENSP00000505447.1:n.709-1007C>A
ENST00000680844.1:c.*518C>A	ENSP00000506541.1:n.*518C>A
ENST00000680948.1:c.*601C>A	ENSP00000505441.1:n.*601C>A
ENST00000680964.1:c.734C>A	ENSP00000505961.1:p.Ser245Ter
ENST00000681037.1:c.*2218C>A	ENSP00000506025.1:n.*2218C>A
ENST00000681063.1:c.600-1007C>A	ENSP00000506616.1:n.600-1007C>A
ENST00000681209.1:c.*389C>A	ENSP00000505877.1:n.*389C>A
ENST00000681278.1:n.1091C>A
ENST00000681289.1:n.4729C>A
ENST00000681361.1:c.*401C>A	ENSP00000506679.1:n.*401C>A
ENST00000681430.1:c.734C>A	ENSP00000506301.1:p.Ser245Ter
ENST00000681446.1:c.*316C>A	ENSP00000506244.1:n.*316C>A
ENST00000681450.1:c.*405C>A	ENSP00000505660.1:n.*405C>A
ENST00000681548.1:c.*320C>A	ENSP00000505275.1:n.*320C>A
ENST00000681616.1:c.*393C>A	ENSP00000505111.1:n.*393C>A
ENST00000681621.1:c.*318C>A	ENSP00000505770.1:n.*318C>A
ENST00000681680.1:n.2829C>A
ENST00000681720.1:c.*189C>A	ENSP00000505438.1:n.*189C>A
ENST00000681730.1:n.956C>A
ENST00000681790.1:c.476C>A	ENSP00000505130.1:p.Ser159Ter
ENST00000681837.1:n.1350C>A
ENST00000681913.1:n.2858C>A
ENST00000681916.1:c.*502C>A	ENSP00000506477.1:n.*502C>A
ENST00000681930.1:n.2858C>A
ENST00000370834.9:c.833C>A	ENSP00000359871.5:p.Ser278Ter
ENST00000370841.8:c.734C>A	ENSP00000359878.4:p.Ser245Ter
ENST00000420607.6:c.746C>A	ENSP00000409612.2:p.Ser249Ter
ENST00000525808.5:c.*320C>A	ENSP00000434823.1:n.*320C>A
ENST00000526129.5:c.*518C>A	ENSP00000434092.1:n.*518C>A
ENST00000526196.5:c.*502C>A	ENSP00000431953.1:n.*502C>A
ENST00000526930.1:n.507C>A
ENST00000529059.5:n.643C>A
ENST00000530953.6:c.*231C>A	ENSP00000431372.1:n.*231C>A
ENST00000532207.5:n.464C>A
ENST00000532509.5:c.*498C>A	ENSP00000432522.1:n.*498C>A
ENST00000534334.5:c.*318C>A	ENSP00000435584.1:n.*318C>A
ENST00000541113.5:c.626C>A	ENSP00000442324.1:p.Ser209Ter
NM_000016.5:c.734C>A	NP_000007.1:p.Ser245Ter
NM_001127328.2:c.746C>A	NP_001120800.1:p.Ser249Ter
NM_001286042.1:c.626C>A	NP_001272971.1:p.Ser209Ter
NM_001286043.1:c.833C>A	NP_001272972.1:p.Ser278Ter
NM_001286044.1:c.167C>A	NP_001272973.1:p.Ser56Ter
NM_000016.6:c.734C>A MANE Select	NP_000007.1:p.Ser245Ter
NM_001127328.3:c.746C>A	NP_001120800.1:p.Ser249Ter
NM_001286042.2:c.626C>A	NP_001272971.1:p.Ser209Ter
NM_001286043.2:c.833C>A	NP_001272972.1:p.Ser278Ter
NM_001286044.2:c.167C>A	NP_001272973.1:p.Ser56Ter