Canonical Allele Identifier: CA340818075

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226917T>G (hg19) ; chr1:g.75761232T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761232T>G , CM000663.2:g.75761232T>G	GRCh38
NC_000001.10:g.76226917T>G , CM000663.1:g.76226917T>G	GRCh37
NC_000001.9:g.75999505T>G	NCBI36
NG_007045.2:g.41875T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1056T>G MANE Select	ENSP00000359878.5:p.Tyr352Ter
ENST00000473018.3:n.3180T>G
ENST00000532207.6:n.2067T>G
ENST00000541113.6:c.960T>G	ENSP00000442324.2:p.Tyr320Ter
ENST00000679509.1:n.2018T>G
ENST00000679530.1:c.*824T>G	ENSP00000506454.1:n.*824T>G
ENST00000679615.1:n.3071T>G
ENST00000679687.1:c.618T>G	ENSP00000506598.1:p.Tyr206Ter
ENST00000679704.1:c.*822T>G	ENSP00000505117.1:n.*822T>G
ENST00000679709.1:c.*1019T>G	ENSP00000506623.1:n.*1019T>G
ENST00000679976.1:c.*640T>G	ENSP00000505565.1:n.*640T>G
ENST00000680166.1:n.4345T>G
ENST00000680315.1:n.939T>G
ENST00000680517.1:c.*444T>G	ENSP00000505803.1:n.*444T>G
ENST00000680582.1:n.2018T>G
ENST00000680613.1:c.*549T>G	ENSP00000506114.1:n.*549T>G
ENST00000680662.1:c.*970T>G	ENSP00000505080.1:n.*970T>G
ENST00000680691.1:c.*719T>G	ENSP00000506487.1:n.*719T>G
ENST00000680694.1:c.*644T>G	ENSP00000505658.1:n.*644T>G
ENST00000680743.1:c.*845T>G	ENSP00000505073.1:n.*845T>G
ENST00000680749.1:c.*341T>G	ENSP00000505122.1:n.*341T>G
ENST00000680798.1:c.*531T>G	ENSP00000505670.1:n.*531T>G
ENST00000680805.1:c.915T>G	ENSP00000505447.1:p.Tyr305Ter
ENST00000680844.1:c.*840T>G	ENSP00000506541.1:n.*840T>G
ENST00000680948.1:c.*923T>G	ENSP00000505441.1:n.*923T>G
ENST00000680964.1:c.*149T>G	ENSP00000505961.1:n.*149T>G
ENST00000681037.1:c.*2540T>G	ENSP00000506025.1:n.*2540T>G
ENST00000681063.1:c.*325T>G	ENSP00000506616.1:n.*325T>G
ENST00000681209.1:c.*711T>G	ENSP00000505877.1:n.*711T>G
ENST00000681278.1:n.1758T>G
ENST00000681289.1:n.5051T>G
ENST00000681361.1:c.*723T>G	ENSP00000506679.1:n.*723T>G
ENST00000681430.1:c.*149T>G	ENSP00000506301.1:n.*149T>G
ENST00000681446.1:c.*760T>G	ENSP00000506244.1:n.*760T>G
ENST00000681450.1:c.*727T>G	ENSP00000505660.1:n.*727T>G
ENST00000681548.1:c.*642T>G	ENSP00000505275.1:n.*642T>G
ENST00000681616.1:c.*715T>G	ENSP00000505111.1:n.*715T>G
ENST00000681621.1:c.*640T>G	ENSP00000505770.1:n.*640T>G
ENST00000681680.1:n.3151T>G
ENST00000681720.1:c.*511T>G	ENSP00000505438.1:n.*511T>G
ENST00000681730.1:n.1278T>G
ENST00000681790.1:c.798T>G	ENSP00000505130.1:p.Tyr266Ter
ENST00000681837.1:n.1672T>G
ENST00000681913.1:n.3302T>G
ENST00000681916.1:c.*824T>G	ENSP00000506477.1:n.*824T>G
ENST00000681930.1:n.3180T>G
ENST00000370834.9:c.1155T>G	ENSP00000359871.5:p.Tyr385Ter
ENST00000370841.8:c.1056T>G	ENSP00000359878.4:p.Tyr352Ter
ENST00000420607.6:c.1068T>G	ENSP00000409612.2:p.Tyr356Ter
ENST00000481374.1:n.329T>G
ENST00000525808.5:c.*642T>G	ENSP00000434823.1:n.*642T>G
ENST00000526129.5:c.*840T>G	ENSP00000434092.1:n.*840T>G
ENST00000526196.5:c.*824T>G	ENSP00000431953.1:n.*824T>G
ENST00000528016.1:c.160-7945T>G	ENSP00000434284.1:n.160-7945T>G
ENST00000529059.5:n.965T>G
ENST00000534334.5:c.*797T>G	ENSP00000435584.1:n.*797T>G
ENST00000541113.5:c.948T>G	ENSP00000442324.1:p.Tyr316Ter
NM_000016.5:c.1056T>G	NP_000007.1:p.Tyr352Ter
NM_001127328.2:c.1068T>G	NP_001120800.1:p.Tyr356Ter
NM_001286042.1:c.948T>G	NP_001272971.1:p.Tyr316Ter
NM_001286043.1:c.1155T>G	NP_001272972.1:p.Tyr385Ter
NM_001286044.1:c.489T>G	NP_001272973.1:p.Tyr163Ter
NM_000016.6:c.1056T>G MANE Select	NP_000007.1:p.Tyr352Ter
NM_001127328.3:c.1068T>G	NP_001120800.1:p.Tyr356Ter
NM_001286042.2:c.948T>G	NP_001272971.1:p.Tyr316Ter
NM_001286043.2:c.1155T>G	NP_001272972.1:p.Tyr385Ter
NM_001286044.2:c.489T>G	NP_001272973.1:p.Tyr163Ter