Canonical Allele Identifier: CA340816643

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215171A>C (hg19) ; chr1:g.75749486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749486A>C , CM000663.2:g.75749486A>C	GRCh38
NC_000001.10:g.76215171A>C , CM000663.1:g.76215171A>C	GRCh37
NC_000001.9:g.75987759A>C	NCBI36
NG_007045.2:g.30129A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.776A>C MANE Select	ENSP00000359878.5:p.Lys259Thr
ENST00000473018.3:n.2900A>C
ENST00000532207.6:n.1665A>C
ENST00000541113.6:c.776A>C	ENSP00000442324.2:p.Lys259Thr
ENST00000679509.1:n.1738A>C
ENST00000679530.1:c.*544A>C	ENSP00000506454.1:n.*544A>C
ENST00000679615.1:n.2791A>C
ENST00000679687.1:c.338A>C	ENSP00000506598.1:p.Lys113Thr
ENST00000679704.1:c.*542A>C	ENSP00000505117.1:n.*542A>C
ENST00000679709.1:c.*739A>C	ENSP00000506623.1:n.*739A>C
ENST00000679976.1:c.*360A>C	ENSP00000505565.1:n.*360A>C
ENST00000680166.1:n.4065A>C
ENST00000680517.1:c.*164A>C	ENSP00000505803.1:n.*164A>C
ENST00000680582.1:n.1738A>C
ENST00000680613.1:c.*147A>C	ENSP00000506114.1:n.*147A>C
ENST00000680662.1:c.*690A>C	ENSP00000505080.1:n.*690A>C
ENST00000680691.1:c.*439A>C	ENSP00000506487.1:n.*439A>C
ENST00000680694.1:c.*364A>C	ENSP00000505658.1:n.*364A>C
ENST00000680743.1:c.*443A>C	ENSP00000505073.1:n.*443A>C
ENST00000680749.1:c.*61A>C	ENSP00000505122.1:n.*61A>C
ENST00000680798.1:c.*251A>C	ENSP00000505670.1:n.*251A>C
ENST00000680805.1:c.709-965A>C	ENSP00000505447.1:n.709-965A>C
ENST00000680844.1:c.*560A>C	ENSP00000506541.1:n.*560A>C
ENST00000680948.1:c.*643A>C	ENSP00000505441.1:n.*643A>C
ENST00000680964.1:c.776A>C	ENSP00000505961.1:p.Lys259Thr
ENST00000681037.1:c.*2260A>C	ENSP00000506025.1:n.*2260A>C
ENST00000681063.1:c.600-965A>C	ENSP00000506616.1:n.600-965A>C
ENST00000681209.1:c.*431A>C	ENSP00000505877.1:n.*431A>C
ENST00000681278.1:n.1133A>C
ENST00000681289.1:n.4771A>C
ENST00000681361.1:c.*443A>C	ENSP00000506679.1:n.*443A>C
ENST00000681430.1:c.776A>C	ENSP00000506301.1:p.Lys259Thr
ENST00000681446.1:c.*358A>C	ENSP00000506244.1:n.*358A>C
ENST00000681450.1:c.*447A>C	ENSP00000505660.1:n.*447A>C
ENST00000681548.1:c.*362A>C	ENSP00000505275.1:n.*362A>C
ENST00000681616.1:c.*435A>C	ENSP00000505111.1:n.*435A>C
ENST00000681621.1:c.*360A>C	ENSP00000505770.1:n.*360A>C
ENST00000681680.1:n.2871A>C
ENST00000681720.1:c.*231A>C	ENSP00000505438.1:n.*231A>C
ENST00000681730.1:n.998A>C
ENST00000681790.1:c.518A>C	ENSP00000505130.1:p.Lys173Thr
ENST00000681837.1:n.1392A>C
ENST00000681913.1:n.2900A>C
ENST00000681916.1:c.*544A>C	ENSP00000506477.1:n.*544A>C
ENST00000681930.1:n.2900A>C
ENST00000370834.9:c.875A>C	ENSP00000359871.5:p.Lys292Thr
ENST00000370841.8:c.776A>C	ENSP00000359878.4:p.Lys259Thr
ENST00000420607.6:c.788A>C	ENSP00000409612.2:p.Lys263Thr
ENST00000525808.5:c.*362A>C	ENSP00000434823.1:n.*362A>C
ENST00000526129.5:c.*560A>C	ENSP00000434092.1:n.*560A>C
ENST00000526196.5:c.*544A>C	ENSP00000431953.1:n.*544A>C
ENST00000526930.1:n.549A>C
ENST00000529059.5:n.685A>C
ENST00000530953.6:c.*273A>C	ENSP00000431372.1:n.*273A>C
ENST00000532207.5:n.506A>C
ENST00000532509.5:c.*540A>C	ENSP00000432522.1:n.*540A>C
ENST00000534334.5:c.*360A>C	ENSP00000435584.1:n.*360A>C
ENST00000541113.5:c.668A>C	ENSP00000442324.1:p.Lys223Thr
NM_000016.5:c.776A>C	NP_000007.1:p.Lys259Thr
NM_001127328.2:c.788A>C	NP_001120800.1:p.Lys263Thr
NM_001286042.1:c.668A>C	NP_001272971.1:p.Lys223Thr
NM_001286043.1:c.875A>C	NP_001272972.1:p.Lys292Thr
NM_001286044.1:c.209A>C	NP_001272973.1:p.Lys70Thr
NM_000016.6:c.776A>C MANE Select	NP_000007.1:p.Lys259Thr
NM_001127328.3:c.788A>C	NP_001120800.1:p.Lys263Thr
NM_001286042.2:c.668A>C	NP_001272971.1:p.Lys223Thr
NM_001286043.2:c.875A>C	NP_001272972.1:p.Lys292Thr
NM_001286044.2:c.209A>C	NP_001272973.1:p.Lys70Thr