Canonical Allele Identifier: CA418707834

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227052T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761367T>C , CM000663.2:g.75761367T>C	GRCh38
NC_000001.10:g.76227052T>C , CM000663.1:g.76227052T>C	GRCh37
NC_000001.9:g.75999640T>C	NCBI36
NG_007045.2:g.42010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1191T>C MANE Select	ENSP00000359878.5:p.Tyr397=
ENST00000473018.3:n.3315T>C
ENST00000532207.6:n.2202T>C
ENST00000541113.6:c.1095T>C	ENSP00000442324.2:p.Tyr365=
ENST00000679509.1:n.2153T>C
ENST00000679530.1:c.*959T>C	ENSP00000506454.1:n.*959T>C
ENST00000679615.1:n.3206T>C
ENST00000679687.1:c.753T>C	ENSP00000506598.1:p.Tyr251=
ENST00000679704.1:c.*957T>C	ENSP00000505117.1:n.*957T>C
ENST00000679709.1:c.*1154T>C	ENSP00000506623.1:n.*1154T>C
ENST00000679976.1:c.*775T>C	ENSP00000505565.1:n.*775T>C
ENST00000680166.1:n.4480T>C
ENST00000680315.1:n.1074T>C
ENST00000680517.1:c.*579T>C	ENSP00000505803.1:n.*579T>C
ENST00000680582.1:n.2153T>C
ENST00000680613.1:c.*684T>C	ENSP00000506114.1:n.*684T>C
ENST00000680662.1:c.*1105T>C	ENSP00000505080.1:n.*1105T>C
ENST00000680691.1:c.*854T>C	ENSP00000506487.1:n.*854T>C
ENST00000680694.1:c.*779T>C	ENSP00000505658.1:n.*779T>C
ENST00000680743.1:c.*980T>C	ENSP00000505073.1:n.*980T>C
ENST00000680749.1:c.*476T>C	ENSP00000505122.1:n.*476T>C
ENST00000680798.1:c.*666T>C	ENSP00000505670.1:n.*666T>C
ENST00000680805.1:c.1050T>C	ENSP00000505447.1:p.Tyr350=
ENST00000680844.1:c.*975T>C	ENSP00000506541.1:n.*975T>C
ENST00000680948.1:c.*1058T>C	ENSP00000505441.1:n.*1058T>C
ENST00000680964.1:c.*284T>C	ENSP00000505961.1:n.*284T>C
ENST00000681037.1:c.*2675T>C	ENSP00000506025.1:n.*2675T>C
ENST00000681063.1:c.*460T>C	ENSP00000506616.1:n.*460T>C
ENST00000681209.1:c.*846T>C	ENSP00000505877.1:n.*846T>C
ENST00000681278.1:n.1893T>C
ENST00000681289.1:n.5186T>C
ENST00000681361.1:c.*858T>C	ENSP00000506679.1:n.*858T>C
ENST00000681430.1:c.*284T>C	ENSP00000506301.1:n.*284T>C
ENST00000681446.1:c.*895T>C	ENSP00000506244.1:n.*895T>C
ENST00000681450.1:c.*862T>C	ENSP00000505660.1:n.*862T>C
ENST00000681548.1:c.*777T>C	ENSP00000505275.1:n.*777T>C
ENST00000681616.1:c.*850T>C	ENSP00000505111.1:n.*850T>C
ENST00000681621.1:c.*775T>C	ENSP00000505770.1:n.*775T>C
ENST00000681680.1:n.3286T>C
ENST00000681720.1:c.*646T>C	ENSP00000505438.1:n.*646T>C
ENST00000681730.1:n.1413T>C
ENST00000681790.1:c.933T>C	ENSP00000505130.1:p.Tyr311=
ENST00000681837.1:n.1807T>C
ENST00000681913.1:n.3437T>C
ENST00000681916.1:c.*959T>C	ENSP00000506477.1:n.*959T>C
ENST00000681930.1:n.3315T>C
ENST00000370834.9:c.1290T>C	ENSP00000359871.5:p.Tyr430=
ENST00000370841.8:c.1191T>C	ENSP00000359878.4:p.Tyr397=
ENST00000420607.6:c.1203T>C	ENSP00000409612.2:p.Tyr401=
ENST00000481374.1:n.464T>C
ENST00000525808.5:c.*777T>C	ENSP00000434823.1:n.*777T>C
ENST00000526129.5:c.*975T>C	ENSP00000434092.1:n.*975T>C
ENST00000526196.5:c.*959T>C	ENSP00000431953.1:n.*959T>C
ENST00000528016.1:c.160-7810T>C	ENSP00000434284.1:n.160-7810T>C
ENST00000529059.5:n.1100T>C
ENST00000541113.5:c.1083T>C	ENSP00000442324.1:p.Tyr361=
NM_000016.5:c.1191T>C	NP_000007.1:p.Tyr397=
NM_001127328.2:c.1203T>C	NP_001120800.1:p.Tyr401=
NM_001286042.1:c.1083T>C	NP_001272971.1:p.Tyr361=
NM_001286043.1:c.1290T>C	NP_001272972.1:p.Tyr430=
NM_001286044.1:c.624T>C	NP_001272973.1:p.Tyr208=
NM_000016.6:c.1191T>C MANE Select	NP_000007.1:p.Tyr397=
NM_001127328.3:c.1203T>C	NP_001120800.1:p.Tyr401=
NM_001286042.2:c.1083T>C	NP_001272971.1:p.Tyr361=
NM_001286043.2:c.1290T>C	NP_001272972.1:p.Tyr430=
NM_001286044.2:c.624T>C	NP_001272973.1:p.Tyr208=