Canonical Allele Identifier: CA340818072

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226916A>C (hg19) ; chr1:g.75761231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761231A>C , CM000663.2:g.75761231A>C	GRCh38
NC_000001.10:g.76226916A>C , CM000663.1:g.76226916A>C	GRCh37
NC_000001.9:g.75999504A>C	NCBI36
NG_007045.2:g.41874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1055A>C MANE Select	ENSP00000359878.5:p.Tyr352Ser
ENST00000473018.3:n.3179A>C
ENST00000532207.6:n.2066A>C
ENST00000541113.6:c.959A>C	ENSP00000442324.2:p.Tyr320Ser
ENST00000679509.1:n.2017A>C
ENST00000679530.1:c.*823A>C	ENSP00000506454.1:n.*823A>C
ENST00000679615.1:n.3070A>C
ENST00000679687.1:c.617A>C	ENSP00000506598.1:p.Tyr206Ser
ENST00000679704.1:c.*821A>C	ENSP00000505117.1:n.*821A>C
ENST00000679709.1:c.*1018A>C	ENSP00000506623.1:n.*1018A>C
ENST00000679976.1:c.*639A>C	ENSP00000505565.1:n.*639A>C
ENST00000680166.1:n.4344A>C
ENST00000680315.1:n.938A>C
ENST00000680517.1:c.*443A>C	ENSP00000505803.1:n.*443A>C
ENST00000680582.1:n.2017A>C
ENST00000680613.1:c.*548A>C	ENSP00000506114.1:n.*548A>C
ENST00000680662.1:c.*969A>C	ENSP00000505080.1:n.*969A>C
ENST00000680691.1:c.*718A>C	ENSP00000506487.1:n.*718A>C
ENST00000680694.1:c.*643A>C	ENSP00000505658.1:n.*643A>C
ENST00000680743.1:c.*844A>C	ENSP00000505073.1:n.*844A>C
ENST00000680749.1:c.*340A>C	ENSP00000505122.1:n.*340A>C
ENST00000680798.1:c.*530A>C	ENSP00000505670.1:n.*530A>C
ENST00000680805.1:c.914A>C	ENSP00000505447.1:p.Tyr305Ser
ENST00000680844.1:c.*839A>C	ENSP00000506541.1:n.*839A>C
ENST00000680948.1:c.*922A>C	ENSP00000505441.1:n.*922A>C
ENST00000680964.1:c.*148A>C	ENSP00000505961.1:n.*148A>C
ENST00000681037.1:c.*2539A>C	ENSP00000506025.1:n.*2539A>C
ENST00000681063.1:c.*324A>C	ENSP00000506616.1:n.*324A>C
ENST00000681209.1:c.*710A>C	ENSP00000505877.1:n.*710A>C
ENST00000681278.1:n.1757A>C
ENST00000681289.1:n.5050A>C
ENST00000681361.1:c.*722A>C	ENSP00000506679.1:n.*722A>C
ENST00000681430.1:c.*148A>C	ENSP00000506301.1:n.*148A>C
ENST00000681446.1:c.*759A>C	ENSP00000506244.1:n.*759A>C
ENST00000681450.1:c.*726A>C	ENSP00000505660.1:n.*726A>C
ENST00000681548.1:c.*641A>C	ENSP00000505275.1:n.*641A>C
ENST00000681616.1:c.*714A>C	ENSP00000505111.1:n.*714A>C
ENST00000681621.1:c.*639A>C	ENSP00000505770.1:n.*639A>C
ENST00000681680.1:n.3150A>C
ENST00000681720.1:c.*510A>C	ENSP00000505438.1:n.*510A>C
ENST00000681730.1:n.1277A>C
ENST00000681790.1:c.797A>C	ENSP00000505130.1:p.Tyr266Ser
ENST00000681837.1:n.1671A>C
ENST00000681913.1:n.3301A>C
ENST00000681916.1:c.*823A>C	ENSP00000506477.1:n.*823A>C
ENST00000681930.1:n.3179A>C
ENST00000370834.9:c.1154A>C	ENSP00000359871.5:p.Tyr385Ser
ENST00000370841.8:c.1055A>C	ENSP00000359878.4:p.Tyr352Ser
ENST00000420607.6:c.1067A>C	ENSP00000409612.2:p.Tyr356Ser
ENST00000481374.1:n.328A>C
ENST00000525808.5:c.*641A>C	ENSP00000434823.1:n.*641A>C
ENST00000526129.5:c.*839A>C	ENSP00000434092.1:n.*839A>C
ENST00000526196.5:c.*823A>C	ENSP00000431953.1:n.*823A>C
ENST00000528016.1:c.160-7946A>C	ENSP00000434284.1:n.160-7946A>C
ENST00000529059.5:n.964A>C
ENST00000534334.5:c.*796A>C	ENSP00000435584.1:n.*796A>C
ENST00000541113.5:c.947A>C	ENSP00000442324.1:p.Tyr316Ser
NM_000016.5:c.1055A>C	NP_000007.1:p.Tyr352Ser
NM_001127328.2:c.1067A>C	NP_001120800.1:p.Tyr356Ser
NM_001286042.1:c.947A>C	NP_001272971.1:p.Tyr316Ser
NM_001286043.1:c.1154A>C	NP_001272972.1:p.Tyr385Ser
NM_001286044.1:c.488A>C	NP_001272973.1:p.Tyr163Ser
NM_000016.6:c.1055A>C MANE Select	NP_000007.1:p.Tyr352Ser
NM_001127328.3:c.1067A>C	NP_001120800.1:p.Tyr356Ser
NM_001286042.2:c.947A>C	NP_001272971.1:p.Tyr316Ser
NM_001286043.2:c.1154A>C	NP_001272972.1:p.Tyr385Ser
NM_001286044.2:c.488A>C	NP_001272973.1:p.Tyr163Ser