Canonical Allele Identifier: CA340818085

Gene: ACADM

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1060G>T MANE Select	ENSP00000359878.5:p.Ala354Ser
ENST00000473018.3:n.3184G>T
ENST00000532207.6:n.2071G>T
ENST00000541113.6:c.964G>T	ENSP00000442324.2:p.Ala322Ser
ENST00000679509.1:n.2022G>T
ENST00000679530.1:c.*828G>T	ENSP00000506454.1:n.*828G>T
ENST00000679615.1:n.3075G>T
ENST00000679687.1:c.622G>T	ENSP00000506598.1:p.Ala208Ser
ENST00000679704.1:c.*826G>T	ENSP00000505117.1:n.*826G>T
ENST00000679709.1:c.*1023G>T	ENSP00000506623.1:n.*1023G>T
ENST00000679976.1:c.*644G>T	ENSP00000505565.1:n.*644G>T
ENST00000680166.1:n.4349G>T
ENST00000680315.1:n.943G>T
ENST00000680517.1:c.*448G>T	ENSP00000505803.1:n.*448G>T
ENST00000680582.1:n.2022G>T
ENST00000680613.1:c.*553G>T	ENSP00000506114.1:n.*553G>T
ENST00000680662.1:c.*974G>T	ENSP00000505080.1:n.*974G>T
ENST00000680691.1:c.*723G>T	ENSP00000506487.1:n.*723G>T
ENST00000680694.1:c.*648G>T	ENSP00000505658.1:n.*648G>T
ENST00000680743.1:c.*849G>T	ENSP00000505073.1:n.*849G>T
ENST00000680749.1:c.*345G>T	ENSP00000505122.1:n.*345G>T
ENST00000680798.1:c.*535G>T	ENSP00000505670.1:n.*535G>T
ENST00000680805.1:c.919G>T	ENSP00000505447.1:p.Ala307Ser
ENST00000680844.1:c.*844G>T	ENSP00000506541.1:n.*844G>T
ENST00000680948.1:c.*927G>T	ENSP00000505441.1:n.*927G>T
ENST00000680964.1:c.*153G>T	ENSP00000505961.1:n.*153G>T
ENST00000681037.1:c.*2544G>T	ENSP00000506025.1:n.*2544G>T
ENST00000681063.1:c.*329G>T	ENSP00000506616.1:n.*329G>T
ENST00000681209.1:c.*715G>T	ENSP00000505877.1:n.*715G>T
ENST00000681278.1:n.1762G>T
ENST00000681289.1:n.5055G>T
ENST00000681361.1:c.*727G>T	ENSP00000506679.1:n.*727G>T
ENST00000681430.1:c.*153G>T	ENSP00000506301.1:n.*153G>T
ENST00000681446.1:c.*764G>T	ENSP00000506244.1:n.*764G>T
ENST00000681450.1:c.*731G>T	ENSP00000505660.1:n.*731G>T
ENST00000681548.1:c.*646G>T	ENSP00000505275.1:n.*646G>T
ENST00000681616.1:c.*719G>T	ENSP00000505111.1:n.*719G>T
ENST00000681621.1:c.*644G>T	ENSP00000505770.1:n.*644G>T
ENST00000681680.1:n.3155G>T
ENST00000681720.1:c.*515G>T	ENSP00000505438.1:n.*515G>T
ENST00000681730.1:n.1282G>T
ENST00000681790.1:c.802G>T	ENSP00000505130.1:p.Ala268Ser
ENST00000681837.1:n.1676G>T
ENST00000681913.1:n.3306G>T
ENST00000681916.1:c.*828G>T	ENSP00000506477.1:n.*828G>T
ENST00000681930.1:n.3184G>T
ENST00000370834.9:c.1159G>T	ENSP00000359871.5:p.Ala387Ser
ENST00000370841.8:c.1060G>T	ENSP00000359878.4:p.Ala354Ser
ENST00000420607.6:c.1072G>T	ENSP00000409612.2:p.Ala358Ser
ENST00000481374.1:n.333G>T
ENST00000525808.5:c.*646G>T	ENSP00000434823.1:n.*646G>T
ENST00000526129.5:c.*844G>T	ENSP00000434092.1:n.*844G>T
ENST00000526196.5:c.*828G>T	ENSP00000431953.1:n.*828G>T
ENST00000528016.1:c.160-7941G>T	ENSP00000434284.1:n.160-7941G>T
ENST00000529059.5:n.969G>T
ENST00000534334.5:c.*801G>T	ENSP00000435584.1:n.*801G>T
ENST00000541113.5:c.952G>T	ENSP00000442324.1:p.Ala318Ser
NM_000016.5:c.1060G>T	NP_000007.1:p.Ala354Ser
NM_001127328.2:c.1072G>T	NP_001120800.1:p.Ala358Ser
NM_001286042.1:c.952G>T	NP_001272971.1:p.Ala318Ser
NM_001286043.1:c.1159G>T	NP_001272972.1:p.Ala387Ser
NM_001286044.1:c.493G>T	NP_001272973.1:p.Ala165Ser
NM_000016.6:c.1060G>T MANE Select	NP_000007.1:p.Ala354Ser
NM_001127328.3:c.1072G>T	NP_001120800.1:p.Ala358Ser
NM_001286042.2:c.952G>T	NP_001272971.1:p.Ala318Ser
NM_001286043.2:c.1159G>T	NP_001272972.1:p.Ala387Ser
NM_001286044.2:c.493G>T	NP_001272973.1:p.Ala165Ser