Canonical Allele Identifier: CA340817856

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226817T>C (hg19) ; chr1:g.75761132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761132T>C , CM000663.2:g.75761132T>C	GRCh38
NC_000001.10:g.76226817T>C , CM000663.1:g.76226817T>C	GRCh37
NC_000001.9:g.75999405T>C	NCBI36
NG_007045.2:g.41775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.956T>C MANE Select	ENSP00000359878.5:p.Ile319Thr
ENST00000473018.3:n.3080T>C
ENST00000532207.6:n.1967T>C
ENST00000541113.6:c.860T>C	ENSP00000442324.2:p.Ile287Thr
ENST00000679509.1:n.1918T>C
ENST00000679530.1:c.*724T>C	ENSP00000506454.1:n.*724T>C
ENST00000679615.1:n.2971T>C
ENST00000679687.1:c.518T>C	ENSP00000506598.1:p.Ile173Thr
ENST00000679704.1:c.*722T>C	ENSP00000505117.1:n.*722T>C
ENST00000679709.1:c.*919T>C	ENSP00000506623.1:n.*919T>C
ENST00000679976.1:c.*540T>C	ENSP00000505565.1:n.*540T>C
ENST00000680166.1:n.4245T>C
ENST00000680315.1:n.839T>C
ENST00000680517.1:c.*344T>C	ENSP00000505803.1:n.*344T>C
ENST00000680582.1:n.1918T>C
ENST00000680613.1:c.*449T>C	ENSP00000506114.1:n.*449T>C
ENST00000680662.1:c.*870T>C	ENSP00000505080.1:n.*870T>C
ENST00000680691.1:c.*619T>C	ENSP00000506487.1:n.*619T>C
ENST00000680694.1:c.*544T>C	ENSP00000505658.1:n.*544T>C
ENST00000680743.1:c.*745T>C	ENSP00000505073.1:n.*745T>C
ENST00000680749.1:c.*241T>C	ENSP00000505122.1:n.*241T>C
ENST00000680798.1:c.*431T>C	ENSP00000505670.1:n.*431T>C
ENST00000680805.1:c.815T>C	ENSP00000505447.1:p.Ile272Thr
ENST00000680844.1:c.*740T>C	ENSP00000506541.1:n.*740T>C
ENST00000680948.1:c.*823T>C	ENSP00000505441.1:n.*823T>C
ENST00000680964.1:c.*49T>C	ENSP00000505961.1:n.*49T>C
ENST00000681037.1:c.*2440T>C	ENSP00000506025.1:n.*2440T>C
ENST00000681063.1:c.*225T>C	ENSP00000506616.1:n.*225T>C
ENST00000681209.1:c.*611T>C	ENSP00000505877.1:n.*611T>C
ENST00000681278.1:n.1658T>C
ENST00000681289.1:n.4951T>C
ENST00000681361.1:c.*623T>C	ENSP00000506679.1:n.*623T>C
ENST00000681430.1:c.*49T>C	ENSP00000506301.1:n.*49T>C
ENST00000681446.1:c.*660T>C	ENSP00000506244.1:n.*660T>C
ENST00000681450.1:c.*627T>C	ENSP00000505660.1:n.*627T>C
ENST00000681548.1:c.*542T>C	ENSP00000505275.1:n.*542T>C
ENST00000681616.1:c.*615T>C	ENSP00000505111.1:n.*615T>C
ENST00000681621.1:c.*540T>C	ENSP00000505770.1:n.*540T>C
ENST00000681680.1:n.3051T>C
ENST00000681720.1:c.*411T>C	ENSP00000505438.1:n.*411T>C
ENST00000681730.1:n.1178T>C
ENST00000681790.1:c.698T>C	ENSP00000505130.1:p.Ile233Thr
ENST00000681837.1:n.1572T>C
ENST00000681913.1:n.3202T>C
ENST00000681916.1:c.*724T>C	ENSP00000506477.1:n.*724T>C
ENST00000681930.1:n.3080T>C
ENST00000370834.9:c.1055T>C	ENSP00000359871.5:p.Ile352Thr
ENST00000370841.8:c.956T>C	ENSP00000359878.4:p.Ile319Thr
ENST00000420607.6:c.968T>C	ENSP00000409612.2:p.Ile323Thr
ENST00000481374.1:n.229T>C
ENST00000525808.5:c.*542T>C	ENSP00000434823.1:n.*542T>C
ENST00000526129.5:c.*740T>C	ENSP00000434092.1:n.*740T>C
ENST00000526196.5:c.*724T>C	ENSP00000431953.1:n.*724T>C
ENST00000528016.1:c.160-8045T>C	ENSP00000434284.1:n.160-8045T>C
ENST00000529059.5:n.865T>C
ENST00000532207.5:n.686T>C
ENST00000534334.5:c.*697T>C	ENSP00000435584.1:n.*697T>C
ENST00000541113.5:c.848T>C	ENSP00000442324.1:p.Ile283Thr
NM_000016.5:c.956T>C	NP_000007.1:p.Ile319Thr
NM_001127328.2:c.968T>C	NP_001120800.1:p.Ile323Thr
NM_001286042.1:c.848T>C	NP_001272971.1:p.Ile283Thr
NM_001286043.1:c.1055T>C	NP_001272972.1:p.Ile352Thr
NM_001286044.1:c.389T>C	NP_001272973.1:p.Ile130Thr
NM_000016.6:c.956T>C MANE Select	NP_000007.1:p.Ile319Thr
NM_001127328.3:c.968T>C	NP_001120800.1:p.Ile323Thr
NM_001286042.2:c.848T>C	NP_001272971.1:p.Ile283Thr
NM_001286043.2:c.1055T>C	NP_001272972.1:p.Ile352Thr
NM_001286044.2:c.389T>C	NP_001272973.1:p.Ile130Thr