Canonical Allele Identifier: CA340818285

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76227016T>A (hg19) ; chr1:g.75761331T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1155T>A MANE Select	ENSP00000359878.5:p.Tyr385Ter
ENST00000473018.3:n.3279T>A
ENST00000532207.6:n.2166T>A
ENST00000541113.6:c.1059T>A	ENSP00000442324.2:p.Tyr353Ter
ENST00000679509.1:n.2117T>A
ENST00000679530.1:c.*923T>A	ENSP00000506454.1:n.*923T>A
ENST00000679615.1:n.3170T>A
ENST00000679687.1:c.717T>A	ENSP00000506598.1:p.Tyr239Ter
ENST00000679704.1:c.*921T>A	ENSP00000505117.1:n.*921T>A
ENST00000679709.1:c.*1118T>A	ENSP00000506623.1:n.*1118T>A
ENST00000679976.1:c.*739T>A	ENSP00000505565.1:n.*739T>A
ENST00000680166.1:n.4444T>A
ENST00000680315.1:n.1038T>A
ENST00000680517.1:c.*543T>A	ENSP00000505803.1:n.*543T>A
ENST00000680582.1:n.2117T>A
ENST00000680613.1:c.*648T>A	ENSP00000506114.1:n.*648T>A
ENST00000680662.1:c.*1069T>A	ENSP00000505080.1:n.*1069T>A
ENST00000680691.1:c.*818T>A	ENSP00000506487.1:n.*818T>A
ENST00000680694.1:c.*743T>A	ENSP00000505658.1:n.*743T>A
ENST00000680743.1:c.*944T>A	ENSP00000505073.1:n.*944T>A
ENST00000680749.1:c.*440T>A	ENSP00000505122.1:n.*440T>A
ENST00000680798.1:c.*630T>A	ENSP00000505670.1:n.*630T>A
ENST00000680805.1:c.1014T>A	ENSP00000505447.1:p.Tyr338Ter
ENST00000680844.1:c.*939T>A	ENSP00000506541.1:n.*939T>A
ENST00000680948.1:c.*1022T>A	ENSP00000505441.1:n.*1022T>A
ENST00000680964.1:c.*248T>A	ENSP00000505961.1:n.*248T>A
ENST00000681037.1:c.*2639T>A	ENSP00000506025.1:n.*2639T>A
ENST00000681063.1:c.*424T>A	ENSP00000506616.1:n.*424T>A
ENST00000681209.1:c.*810T>A	ENSP00000505877.1:n.*810T>A
ENST00000681278.1:n.1857T>A
ENST00000681289.1:n.5150T>A
ENST00000681361.1:c.*822T>A	ENSP00000506679.1:n.*822T>A
ENST00000681430.1:c.*248T>A	ENSP00000506301.1:n.*248T>A
ENST00000681446.1:c.*859T>A	ENSP00000506244.1:n.*859T>A
ENST00000681450.1:c.*826T>A	ENSP00000505660.1:n.*826T>A
ENST00000681548.1:c.*741T>A	ENSP00000505275.1:n.*741T>A
ENST00000681616.1:c.*814T>A	ENSP00000505111.1:n.*814T>A
ENST00000681621.1:c.*739T>A	ENSP00000505770.1:n.*739T>A
ENST00000681680.1:n.3250T>A
ENST00000681720.1:c.*610T>A	ENSP00000505438.1:n.*610T>A
ENST00000681730.1:n.1377T>A
ENST00000681790.1:c.897T>A	ENSP00000505130.1:p.Tyr299Ter
ENST00000681837.1:n.1771T>A
ENST00000681913.1:n.3401T>A
ENST00000681916.1:c.*923T>A	ENSP00000506477.1:n.*923T>A
ENST00000681930.1:n.3279T>A
ENST00000370834.9:c.1254T>A	ENSP00000359871.5:p.Tyr418Ter
ENST00000370841.8:c.1155T>A	ENSP00000359878.4:p.Tyr385Ter
ENST00000420607.6:c.1167T>A	ENSP00000409612.2:p.Tyr389Ter
ENST00000481374.1:n.428T>A
ENST00000525808.5:c.*741T>A	ENSP00000434823.1:n.*741T>A
ENST00000526129.5:c.*939T>A	ENSP00000434092.1:n.*939T>A
ENST00000526196.5:c.*923T>A	ENSP00000431953.1:n.*923T>A
ENST00000528016.1:c.160-7846T>A	ENSP00000434284.1:n.160-7846T>A
ENST00000529059.5:n.1064T>A
ENST00000541113.5:c.1047T>A	ENSP00000442324.1:p.Tyr349Ter
NM_000016.5:c.1155T>A	NP_000007.1:p.Tyr385Ter
NM_001127328.2:c.1167T>A	NP_001120800.1:p.Tyr389Ter
NM_001286042.1:c.1047T>A	NP_001272971.1:p.Tyr349Ter
NM_001286043.1:c.1254T>A	NP_001272972.1:p.Tyr418Ter
NM_001286044.1:c.588T>A	NP_001272973.1:p.Tyr196Ter
NM_000016.6:c.1155T>A MANE Select	NP_000007.1:p.Tyr385Ter
NM_001127328.3:c.1167T>A	NP_001120800.1:p.Tyr389Ter
NM_001286042.2:c.1047T>A	NP_001272971.1:p.Tyr349Ter
NM_001286043.2:c.1254T>A	NP_001272972.1:p.Tyr418Ter
NM_001286044.2:c.588T>A	NP_001272973.1:p.Tyr196Ter