Canonical Allele Identifier: CA418707778

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1155224
• ClinVar RCV Id: RCV001497439
• dbSNP Id: rs2100453722
• MyVariant Identifiers: chr1:g.76227016T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761331T>C , CM000663.2:g.75761331T>C	GRCh38
NC_000001.10:g.76227016T>C , CM000663.1:g.76227016T>C	GRCh37
NC_000001.9:g.75999604T>C	NCBI36
NG_007045.2:g.41974T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1155T>C MANE Select	ENSP00000359878.5:p.Tyr385=
ENST00000473018.3:n.3279T>C
ENST00000532207.6:n.2166T>C
ENST00000541113.6:c.1059T>C	ENSP00000442324.2:p.Tyr353=
ENST00000679509.1:n.2117T>C
ENST00000679530.1:c.*923T>C	ENSP00000506454.1:n.*923T>C
ENST00000679615.1:n.3170T>C
ENST00000679687.1:c.717T>C	ENSP00000506598.1:p.Tyr239=
ENST00000679704.1:c.*921T>C	ENSP00000505117.1:n.*921T>C
ENST00000679709.1:c.*1118T>C	ENSP00000506623.1:n.*1118T>C
ENST00000679976.1:c.*739T>C	ENSP00000505565.1:n.*739T>C
ENST00000680166.1:n.4444T>C
ENST00000680315.1:n.1038T>C
ENST00000680517.1:c.*543T>C	ENSP00000505803.1:n.*543T>C
ENST00000680582.1:n.2117T>C
ENST00000680613.1:c.*648T>C	ENSP00000506114.1:n.*648T>C
ENST00000680662.1:c.*1069T>C	ENSP00000505080.1:n.*1069T>C
ENST00000680691.1:c.*818T>C	ENSP00000506487.1:n.*818T>C
ENST00000680694.1:c.*743T>C	ENSP00000505658.1:n.*743T>C
ENST00000680743.1:c.*944T>C	ENSP00000505073.1:n.*944T>C
ENST00000680749.1:c.*440T>C	ENSP00000505122.1:n.*440T>C
ENST00000680798.1:c.*630T>C	ENSP00000505670.1:n.*630T>C
ENST00000680805.1:c.1014T>C	ENSP00000505447.1:p.Tyr338=
ENST00000680844.1:c.*939T>C	ENSP00000506541.1:n.*939T>C
ENST00000680948.1:c.*1022T>C	ENSP00000505441.1:n.*1022T>C
ENST00000680964.1:c.*248T>C	ENSP00000505961.1:n.*248T>C
ENST00000681037.1:c.*2639T>C	ENSP00000506025.1:n.*2639T>C
ENST00000681063.1:c.*424T>C	ENSP00000506616.1:n.*424T>C
ENST00000681209.1:c.*810T>C	ENSP00000505877.1:n.*810T>C
ENST00000681278.1:n.1857T>C
ENST00000681289.1:n.5150T>C
ENST00000681361.1:c.*822T>C	ENSP00000506679.1:n.*822T>C
ENST00000681430.1:c.*248T>C	ENSP00000506301.1:n.*248T>C
ENST00000681446.1:c.*859T>C	ENSP00000506244.1:n.*859T>C
ENST00000681450.1:c.*826T>C	ENSP00000505660.1:n.*826T>C
ENST00000681548.1:c.*741T>C	ENSP00000505275.1:n.*741T>C
ENST00000681616.1:c.*814T>C	ENSP00000505111.1:n.*814T>C
ENST00000681621.1:c.*739T>C	ENSP00000505770.1:n.*739T>C
ENST00000681680.1:n.3250T>C
ENST00000681720.1:c.*610T>C	ENSP00000505438.1:n.*610T>C
ENST00000681730.1:n.1377T>C
ENST00000681790.1:c.897T>C	ENSP00000505130.1:p.Tyr299=
ENST00000681837.1:n.1771T>C
ENST00000681913.1:n.3401T>C
ENST00000681916.1:c.*923T>C	ENSP00000506477.1:n.*923T>C
ENST00000681930.1:n.3279T>C
ENST00000370834.9:c.1254T>C	ENSP00000359871.5:p.Tyr418=
ENST00000370841.8:c.1155T>C	ENSP00000359878.4:p.Tyr385=
ENST00000420607.6:c.1167T>C	ENSP00000409612.2:p.Tyr389=
ENST00000481374.1:n.428T>C
ENST00000525808.5:c.*741T>C	ENSP00000434823.1:n.*741T>C
ENST00000526129.5:c.*939T>C	ENSP00000434092.1:n.*939T>C
ENST00000526196.5:c.*923T>C	ENSP00000431953.1:n.*923T>C
ENST00000528016.1:c.160-7846T>C	ENSP00000434284.1:n.160-7846T>C
ENST00000529059.5:n.1064T>C
ENST00000541113.5:c.1047T>C	ENSP00000442324.1:p.Tyr349=
NM_000016.5:c.1155T>C	NP_000007.1:p.Tyr385=
NM_001127328.2:c.1167T>C	NP_001120800.1:p.Tyr389=
NM_001286042.1:c.1047T>C	NP_001272971.1:p.Tyr349=
NM_001286043.1:c.1254T>C	NP_001272972.1:p.Tyr418=
NM_001286044.1:c.588T>C	NP_001272973.1:p.Tyr196=
NM_000016.6:c.1155T>C MANE Select	NP_000007.1:p.Tyr385=
NM_001127328.3:c.1167T>C	NP_001120800.1:p.Tyr389=
NM_001286042.2:c.1047T>C	NP_001272971.1:p.Tyr349=
NM_001286043.2:c.1254T>C	NP_001272972.1:p.Tyr418=
NM_001286044.2:c.588T>C	NP_001272973.1:p.Tyr196=