Canonical Allele Identifier: CA340816839

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215240C>A (hg19) ; chr1:g.75749555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749555C>A , CM000663.2:g.75749555C>A	GRCh38
NC_000001.10:g.76215240C>A , CM000663.1:g.76215240C>A	GRCh37
NC_000001.9:g.75987828C>A	NCBI36
NG_007045.2:g.30198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.845C>A MANE Select	ENSP00000359878.5:p.Pro282His
ENST00000473018.3:n.2969C>A
ENST00000532207.6:n.1734C>A
ENST00000541113.6:c.845C>A	ENSP00000442324.2:p.Pro282His
ENST00000679509.1:n.1807C>A
ENST00000679530.1:c.*613C>A	ENSP00000506454.1:n.*613C>A
ENST00000679615.1:n.2860C>A
ENST00000679687.1:c.407C>A	ENSP00000506598.1:p.Pro136His
ENST00000679704.1:c.*611C>A	ENSP00000505117.1:n.*611C>A
ENST00000679709.1:c.*808C>A	ENSP00000506623.1:n.*808C>A
ENST00000679976.1:c.*429C>A	ENSP00000505565.1:n.*429C>A
ENST00000680166.1:n.4134C>A
ENST00000680517.1:c.*233C>A	ENSP00000505803.1:n.*233C>A
ENST00000680582.1:n.1807C>A
ENST00000680613.1:c.*216C>A	ENSP00000506114.1:n.*216C>A
ENST00000680662.1:c.*759C>A	ENSP00000505080.1:n.*759C>A
ENST00000680691.1:c.*508C>A	ENSP00000506487.1:n.*508C>A
ENST00000680694.1:c.*433C>A	ENSP00000505658.1:n.*433C>A
ENST00000680743.1:c.*512C>A	ENSP00000505073.1:n.*512C>A
ENST00000680749.1:c.*130C>A	ENSP00000505122.1:n.*130C>A
ENST00000680798.1:c.*320C>A	ENSP00000505670.1:n.*320C>A
ENST00000680805.1:c.709-896C>A	ENSP00000505447.1:n.709-896C>A
ENST00000680844.1:c.*629C>A	ENSP00000506541.1:n.*629C>A
ENST00000680948.1:c.*712C>A	ENSP00000505441.1:n.*712C>A
ENST00000680964.1:c.845C>A	ENSP00000505961.1:p.Pro282His
ENST00000681037.1:c.*2329C>A	ENSP00000506025.1:n.*2329C>A
ENST00000681063.1:c.600-896C>A	ENSP00000506616.1:n.600-896C>A
ENST00000681209.1:c.*500C>A	ENSP00000505877.1:n.*500C>A
ENST00000681278.1:n.1202C>A
ENST00000681289.1:n.4840C>A
ENST00000681361.1:c.*512C>A	ENSP00000506679.1:n.*512C>A
ENST00000681430.1:c.845C>A	ENSP00000506301.1:p.Pro282His
ENST00000681446.1:c.*427C>A	ENSP00000506244.1:n.*427C>A
ENST00000681450.1:c.*516C>A	ENSP00000505660.1:n.*516C>A
ENST00000681548.1:c.*431C>A	ENSP00000505275.1:n.*431C>A
ENST00000681616.1:c.*504C>A	ENSP00000505111.1:n.*504C>A
ENST00000681621.1:c.*429C>A	ENSP00000505770.1:n.*429C>A
ENST00000681680.1:n.2940C>A
ENST00000681720.1:c.*300C>A	ENSP00000505438.1:n.*300C>A
ENST00000681730.1:n.1067C>A
ENST00000681790.1:c.587C>A	ENSP00000505130.1:p.Pro196His
ENST00000681837.1:n.1461C>A
ENST00000681913.1:n.2969C>A
ENST00000681916.1:c.*613C>A	ENSP00000506477.1:n.*613C>A
ENST00000681930.1:n.2969C>A
ENST00000370834.9:c.944C>A	ENSP00000359871.5:p.Pro315His
ENST00000370841.8:c.845C>A	ENSP00000359878.4:p.Pro282His
ENST00000420607.6:c.857C>A	ENSP00000409612.2:p.Pro286His
ENST00000525808.5:c.*431C>A	ENSP00000434823.1:n.*431C>A
ENST00000526129.5:c.*629C>A	ENSP00000434092.1:n.*629C>A
ENST00000526196.5:c.*613C>A	ENSP00000431953.1:n.*613C>A
ENST00000528016.1:c.59C>A	ENSP00000434284.1:p.Pro20His
ENST00000529059.5:n.754C>A
ENST00000532207.5:n.575C>A
ENST00000534334.5:c.*429C>A	ENSP00000435584.1:n.*429C>A
ENST00000541113.5:c.737C>A	ENSP00000442324.1:p.Pro246His
NM_000016.5:c.845C>A	NP_000007.1:p.Pro282His
NM_001127328.2:c.857C>A	NP_001120800.1:p.Pro286His
NM_001286042.1:c.737C>A	NP_001272971.1:p.Pro246His
NM_001286043.1:c.944C>A	NP_001272972.1:p.Pro315His
NM_001286044.1:c.278C>A	NP_001272973.1:p.Pro93His
NM_000016.6:c.845C>A MANE Select	NP_000007.1:p.Pro282His
NM_001127328.3:c.857C>A	NP_001120800.1:p.Pro286His
NM_001286042.2:c.737C>A	NP_001272971.1:p.Pro246His
NM_001286043.2:c.944C>A	NP_001272972.1:p.Pro315His
NM_001286044.2:c.278C>A	NP_001272973.1:p.Pro93His