Canonical Allele Identifier: CA340816818

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215234C>A (hg19) ; chr1:g.75749549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749549C>A , CM000663.2:g.75749549C>A	GRCh38
NC_000001.10:g.76215234C>A , CM000663.1:g.76215234C>A	GRCh37
NC_000001.9:g.75987822C>A	NCBI36
NG_007045.2:g.30192C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.839C>A MANE Select	ENSP00000359878.5:p.Thr280Asn
ENST00000473018.3:n.2963C>A
ENST00000532207.6:n.1728C>A
ENST00000541113.6:c.839C>A	ENSP00000442324.2:p.Thr280Asn
ENST00000679509.1:n.1801C>A
ENST00000679530.1:c.*607C>A	ENSP00000506454.1:n.*607C>A
ENST00000679615.1:n.2854C>A
ENST00000679687.1:c.401C>A	ENSP00000506598.1:p.Thr134Asn
ENST00000679704.1:c.*605C>A	ENSP00000505117.1:n.*605C>A
ENST00000679709.1:c.*802C>A	ENSP00000506623.1:n.*802C>A
ENST00000679976.1:c.*423C>A	ENSP00000505565.1:n.*423C>A
ENST00000680166.1:n.4128C>A
ENST00000680517.1:c.*227C>A	ENSP00000505803.1:n.*227C>A
ENST00000680582.1:n.1801C>A
ENST00000680613.1:c.*210C>A	ENSP00000506114.1:n.*210C>A
ENST00000680662.1:c.*753C>A	ENSP00000505080.1:n.*753C>A
ENST00000680691.1:c.*502C>A	ENSP00000506487.1:n.*502C>A
ENST00000680694.1:c.*427C>A	ENSP00000505658.1:n.*427C>A
ENST00000680743.1:c.*506C>A	ENSP00000505073.1:n.*506C>A
ENST00000680749.1:c.*124C>A	ENSP00000505122.1:n.*124C>A
ENST00000680798.1:c.*314C>A	ENSP00000505670.1:n.*314C>A
ENST00000680805.1:c.709-902C>A	ENSP00000505447.1:n.709-902C>A
ENST00000680844.1:c.*623C>A	ENSP00000506541.1:n.*623C>A
ENST00000680948.1:c.*706C>A	ENSP00000505441.1:n.*706C>A
ENST00000680964.1:c.839C>A	ENSP00000505961.1:p.Thr280Asn
ENST00000681037.1:c.*2323C>A	ENSP00000506025.1:n.*2323C>A
ENST00000681063.1:c.600-902C>A	ENSP00000506616.1:n.600-902C>A
ENST00000681209.1:c.*494C>A	ENSP00000505877.1:n.*494C>A
ENST00000681278.1:n.1196C>A
ENST00000681289.1:n.4834C>A
ENST00000681361.1:c.*506C>A	ENSP00000506679.1:n.*506C>A
ENST00000681430.1:c.839C>A	ENSP00000506301.1:p.Thr280Asn
ENST00000681446.1:c.*421C>A	ENSP00000506244.1:n.*421C>A
ENST00000681450.1:c.*510C>A	ENSP00000505660.1:n.*510C>A
ENST00000681548.1:c.*425C>A	ENSP00000505275.1:n.*425C>A
ENST00000681616.1:c.*498C>A	ENSP00000505111.1:n.*498C>A
ENST00000681621.1:c.*423C>A	ENSP00000505770.1:n.*423C>A
ENST00000681680.1:n.2934C>A
ENST00000681720.1:c.*294C>A	ENSP00000505438.1:n.*294C>A
ENST00000681730.1:n.1061C>A
ENST00000681790.1:c.581C>A	ENSP00000505130.1:p.Thr194Asn
ENST00000681837.1:n.1455C>A
ENST00000681913.1:n.2963C>A
ENST00000681916.1:c.*607C>A	ENSP00000506477.1:n.*607C>A
ENST00000681930.1:n.2963C>A
ENST00000370834.9:c.938C>A	ENSP00000359871.5:p.Thr313Asn
ENST00000370841.8:c.839C>A	ENSP00000359878.4:p.Thr280Asn
ENST00000420607.6:c.851C>A	ENSP00000409612.2:p.Thr284Asn
ENST00000525808.5:c.*425C>A	ENSP00000434823.1:n.*425C>A
ENST00000526129.5:c.*623C>A	ENSP00000434092.1:n.*623C>A
ENST00000526196.5:c.*607C>A	ENSP00000431953.1:n.*607C>A
ENST00000528016.1:c.53C>A	ENSP00000434284.1:p.Thr18Asn
ENST00000529059.5:n.748C>A
ENST00000532207.5:n.569C>A
ENST00000532509.5:c.*603C>A	ENSP00000432522.1:n.*603C>A
ENST00000534334.5:c.*423C>A	ENSP00000435584.1:n.*423C>A
ENST00000541113.5:c.731C>A	ENSP00000442324.1:p.Thr244Asn
NM_000016.5:c.839C>A	NP_000007.1:p.Thr280Asn
NM_001127328.2:c.851C>A	NP_001120800.1:p.Thr284Asn
NM_001286042.1:c.731C>A	NP_001272971.1:p.Thr244Asn
NM_001286043.1:c.938C>A	NP_001272972.1:p.Thr313Asn
NM_001286044.1:c.272C>A	NP_001272973.1:p.Thr91Asn
NM_000016.6:c.839C>A MANE Select	NP_000007.1:p.Thr280Asn
NM_001127328.3:c.851C>A	NP_001120800.1:p.Thr284Asn
NM_001286042.2:c.731C>A	NP_001272971.1:p.Thr244Asn
NM_001286043.2:c.938C>A	NP_001272972.1:p.Thr313Asn
NM_001286044.2:c.272C>A	NP_001272973.1:p.Thr91Asn