Canonical Allele Identifier: CA340818084

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226921G>C (hg19) ; chr1:g.75761236G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761236G>C , CM000663.2:g.75761236G>C	GRCh38
NC_000001.10:g.76226921G>C , CM000663.1:g.76226921G>C	GRCh37
NC_000001.9:g.75999509G>C	NCBI36
NG_007045.2:g.41879G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1060G>C MANE Select	ENSP00000359878.5:p.Ala354Pro
ENST00000473018.3:n.3184G>C
ENST00000532207.6:n.2071G>C
ENST00000541113.6:c.964G>C	ENSP00000442324.2:p.Ala322Pro
ENST00000679509.1:n.2022G>C
ENST00000679530.1:c.*828G>C	ENSP00000506454.1:n.*828G>C
ENST00000679615.1:n.3075G>C
ENST00000679687.1:c.622G>C	ENSP00000506598.1:p.Ala208Pro
ENST00000679704.1:c.*826G>C	ENSP00000505117.1:n.*826G>C
ENST00000679709.1:c.*1023G>C	ENSP00000506623.1:n.*1023G>C
ENST00000679976.1:c.*644G>C	ENSP00000505565.1:n.*644G>C
ENST00000680166.1:n.4349G>C
ENST00000680315.1:n.943G>C
ENST00000680517.1:c.*448G>C	ENSP00000505803.1:n.*448G>C
ENST00000680582.1:n.2022G>C
ENST00000680613.1:c.*553G>C	ENSP00000506114.1:n.*553G>C
ENST00000680662.1:c.*974G>C	ENSP00000505080.1:n.*974G>C
ENST00000680691.1:c.*723G>C	ENSP00000506487.1:n.*723G>C
ENST00000680694.1:c.*648G>C	ENSP00000505658.1:n.*648G>C
ENST00000680743.1:c.*849G>C	ENSP00000505073.1:n.*849G>C
ENST00000680749.1:c.*345G>C	ENSP00000505122.1:n.*345G>C
ENST00000680798.1:c.*535G>C	ENSP00000505670.1:n.*535G>C
ENST00000680805.1:c.919G>C	ENSP00000505447.1:p.Ala307Pro
ENST00000680844.1:c.*844G>C	ENSP00000506541.1:n.*844G>C
ENST00000680948.1:c.*927G>C	ENSP00000505441.1:n.*927G>C
ENST00000680964.1:c.*153G>C	ENSP00000505961.1:n.*153G>C
ENST00000681037.1:c.*2544G>C	ENSP00000506025.1:n.*2544G>C
ENST00000681063.1:c.*329G>C	ENSP00000506616.1:n.*329G>C
ENST00000681209.1:c.*715G>C	ENSP00000505877.1:n.*715G>C
ENST00000681278.1:n.1762G>C
ENST00000681289.1:n.5055G>C
ENST00000681361.1:c.*727G>C	ENSP00000506679.1:n.*727G>C
ENST00000681430.1:c.*153G>C	ENSP00000506301.1:n.*153G>C
ENST00000681446.1:c.*764G>C	ENSP00000506244.1:n.*764G>C
ENST00000681450.1:c.*731G>C	ENSP00000505660.1:n.*731G>C
ENST00000681548.1:c.*646G>C	ENSP00000505275.1:n.*646G>C
ENST00000681616.1:c.*719G>C	ENSP00000505111.1:n.*719G>C
ENST00000681621.1:c.*644G>C	ENSP00000505770.1:n.*644G>C
ENST00000681680.1:n.3155G>C
ENST00000681720.1:c.*515G>C	ENSP00000505438.1:n.*515G>C
ENST00000681730.1:n.1282G>C
ENST00000681790.1:c.802G>C	ENSP00000505130.1:p.Ala268Pro
ENST00000681837.1:n.1676G>C
ENST00000681913.1:n.3306G>C
ENST00000681916.1:c.*828G>C	ENSP00000506477.1:n.*828G>C
ENST00000681930.1:n.3184G>C
ENST00000370834.9:c.1159G>C	ENSP00000359871.5:p.Ala387Pro
ENST00000370841.8:c.1060G>C	ENSP00000359878.4:p.Ala354Pro
ENST00000420607.6:c.1072G>C	ENSP00000409612.2:p.Ala358Pro
ENST00000481374.1:n.333G>C
ENST00000525808.5:c.*646G>C	ENSP00000434823.1:n.*646G>C
ENST00000526129.5:c.*844G>C	ENSP00000434092.1:n.*844G>C
ENST00000526196.5:c.*828G>C	ENSP00000431953.1:n.*828G>C
ENST00000528016.1:c.160-7941G>C	ENSP00000434284.1:n.160-7941G>C
ENST00000529059.5:n.969G>C
ENST00000534334.5:c.*801G>C	ENSP00000435584.1:n.*801G>C
ENST00000541113.5:c.952G>C	ENSP00000442324.1:p.Ala318Pro
NM_000016.5:c.1060G>C	NP_000007.1:p.Ala354Pro
NM_001127328.2:c.1072G>C	NP_001120800.1:p.Ala358Pro
NM_001286042.1:c.952G>C	NP_001272971.1:p.Ala318Pro
NM_001286043.1:c.1159G>C	NP_001272972.1:p.Ala387Pro
NM_001286044.1:c.493G>C	NP_001272973.1:p.Ala165Pro
NM_000016.6:c.1060G>C MANE Select	NP_000007.1:p.Ala354Pro
NM_001127328.3:c.1072G>C	NP_001120800.1:p.Ala358Pro
NM_001286042.2:c.952G>C	NP_001272971.1:p.Ala318Pro
NM_001286043.2:c.1159G>C	NP_001272972.1:p.Ala387Pro
NM_001286044.2:c.493G>C	NP_001272973.1:p.Ala165Pro