Canonical Allele Identifier: CA418530689

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226830G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761145G>C , CM000663.2:g.75761145G>C	GRCh38
NC_000001.10:g.76226830G>C , CM000663.1:g.76226830G>C	GRCh37
NC_000001.9:g.75999418G>C	NCBI36
NG_007045.2:g.41788G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.969G>C MANE Select	ENSP00000359878.5:p.Leu323=
ENST00000473018.3:n.3093G>C
ENST00000532207.6:n.1980G>C
ENST00000541113.6:c.873G>C	ENSP00000442324.2:p.Leu291=
ENST00000679509.1:n.1931G>C
ENST00000679530.1:c.*737G>C	ENSP00000506454.1:n.*737G>C
ENST00000679615.1:n.2984G>C
ENST00000679687.1:c.531G>C	ENSP00000506598.1:p.Leu177=
ENST00000679704.1:c.*735G>C	ENSP00000505117.1:n.*735G>C
ENST00000679709.1:c.*932G>C	ENSP00000506623.1:n.*932G>C
ENST00000679976.1:c.*553G>C	ENSP00000505565.1:n.*553G>C
ENST00000680166.1:n.4258G>C
ENST00000680315.1:n.852G>C
ENST00000680517.1:c.*357G>C	ENSP00000505803.1:n.*357G>C
ENST00000680582.1:n.1931G>C
ENST00000680613.1:c.*462G>C	ENSP00000506114.1:n.*462G>C
ENST00000680662.1:c.*883G>C	ENSP00000505080.1:n.*883G>C
ENST00000680691.1:c.*632G>C	ENSP00000506487.1:n.*632G>C
ENST00000680694.1:c.*557G>C	ENSP00000505658.1:n.*557G>C
ENST00000680743.1:c.*758G>C	ENSP00000505073.1:n.*758G>C
ENST00000680749.1:c.*254G>C	ENSP00000505122.1:n.*254G>C
ENST00000680798.1:c.*444G>C	ENSP00000505670.1:n.*444G>C
ENST00000680805.1:c.828G>C	ENSP00000505447.1:p.Leu276=
ENST00000680844.1:c.*753G>C	ENSP00000506541.1:n.*753G>C
ENST00000680948.1:c.*836G>C	ENSP00000505441.1:n.*836G>C
ENST00000680964.1:c.*62G>C	ENSP00000505961.1:n.*62G>C
ENST00000681037.1:c.*2453G>C	ENSP00000506025.1:n.*2453G>C
ENST00000681063.1:c.*238G>C	ENSP00000506616.1:n.*238G>C
ENST00000681209.1:c.*624G>C	ENSP00000505877.1:n.*624G>C
ENST00000681278.1:n.1671G>C
ENST00000681289.1:n.4964G>C
ENST00000681361.1:c.*636G>C	ENSP00000506679.1:n.*636G>C
ENST00000681430.1:c.*62G>C	ENSP00000506301.1:n.*62G>C
ENST00000681446.1:c.*673G>C	ENSP00000506244.1:n.*673G>C
ENST00000681450.1:c.*640G>C	ENSP00000505660.1:n.*640G>C
ENST00000681548.1:c.*555G>C	ENSP00000505275.1:n.*555G>C
ENST00000681616.1:c.*628G>C	ENSP00000505111.1:n.*628G>C
ENST00000681621.1:c.*553G>C	ENSP00000505770.1:n.*553G>C
ENST00000681680.1:n.3064G>C
ENST00000681720.1:c.*424G>C	ENSP00000505438.1:n.*424G>C
ENST00000681730.1:n.1191G>C
ENST00000681790.1:c.711G>C	ENSP00000505130.1:p.Leu237=
ENST00000681837.1:n.1585G>C
ENST00000681913.1:n.3215G>C
ENST00000681916.1:c.*737G>C	ENSP00000506477.1:n.*737G>C
ENST00000681930.1:n.3093G>C
ENST00000370834.9:c.1068G>C	ENSP00000359871.5:p.Leu356=
ENST00000370841.8:c.969G>C	ENSP00000359878.4:p.Leu323=
ENST00000420607.6:c.981G>C	ENSP00000409612.2:p.Leu327=
ENST00000481374.1:n.242G>C
ENST00000525808.5:c.*555G>C	ENSP00000434823.1:n.*555G>C
ENST00000526129.5:c.*753G>C	ENSP00000434092.1:n.*753G>C
ENST00000526196.5:c.*737G>C	ENSP00000431953.1:n.*737G>C
ENST00000528016.1:c.160-8032G>C	ENSP00000434284.1:n.160-8032G>C
ENST00000529059.5:n.878G>C
ENST00000532207.5:n.699G>C
ENST00000534334.5:c.*710G>C	ENSP00000435584.1:n.*710G>C
ENST00000541113.5:c.861G>C	ENSP00000442324.1:p.Leu287=
NM_000016.5:c.969G>C	NP_000007.1:p.Leu323=
NM_001127328.2:c.981G>C	NP_001120800.1:p.Leu327=
NM_001286042.1:c.861G>C	NP_001272971.1:p.Leu287=
NM_001286043.1:c.1068G>C	NP_001272972.1:p.Leu356=
NM_001286044.1:c.402G>C	NP_001272973.1:p.Leu134=
NM_000016.6:c.969G>C MANE Select	NP_000007.1:p.Leu323=
NM_001127328.3:c.981G>C	NP_001120800.1:p.Leu327=
NM_001286042.2:c.861G>C	NP_001272971.1:p.Leu287=
NM_001286043.2:c.1068G>C	NP_001272972.1:p.Leu356=
NM_001286044.2:c.402G>C	NP_001272973.1:p.Leu134=