Canonical Allele Identifier: CA340816674

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215183T>G (hg19) ; chr1:g.75749498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749498T>G , CM000663.2:g.75749498T>G	GRCh38
NC_000001.10:g.76215183T>G , CM000663.1:g.76215183T>G	GRCh37
NC_000001.9:g.75987771T>G	NCBI36
NG_007045.2:g.30141T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.788T>G MANE Select	ENSP00000359878.5:p.Leu263Ter
ENST00000473018.3:n.2912T>G
ENST00000532207.6:n.1677T>G
ENST00000541113.6:c.788T>G	ENSP00000442324.2:p.Leu263Ter
ENST00000679509.1:n.1750T>G
ENST00000679530.1:c.*556T>G	ENSP00000506454.1:n.*556T>G
ENST00000679615.1:n.2803T>G
ENST00000679687.1:c.350T>G	ENSP00000506598.1:p.Leu117Ter
ENST00000679704.1:c.*554T>G	ENSP00000505117.1:n.*554T>G
ENST00000679709.1:c.*751T>G	ENSP00000506623.1:n.*751T>G
ENST00000679976.1:c.*372T>G	ENSP00000505565.1:n.*372T>G
ENST00000680166.1:n.4077T>G
ENST00000680517.1:c.*176T>G	ENSP00000505803.1:n.*176T>G
ENST00000680582.1:n.1750T>G
ENST00000680613.1:c.*159T>G	ENSP00000506114.1:n.*159T>G
ENST00000680662.1:c.*702T>G	ENSP00000505080.1:n.*702T>G
ENST00000680691.1:c.*451T>G	ENSP00000506487.1:n.*451T>G
ENST00000680694.1:c.*376T>G	ENSP00000505658.1:n.*376T>G
ENST00000680743.1:c.*455T>G	ENSP00000505073.1:n.*455T>G
ENST00000680749.1:c.*73T>G	ENSP00000505122.1:n.*73T>G
ENST00000680798.1:c.*263T>G	ENSP00000505670.1:n.*263T>G
ENST00000680805.1:c.709-953T>G	ENSP00000505447.1:n.709-953T>G
ENST00000680844.1:c.*572T>G	ENSP00000506541.1:n.*572T>G
ENST00000680948.1:c.*655T>G	ENSP00000505441.1:n.*655T>G
ENST00000680964.1:c.788T>G	ENSP00000505961.1:p.Leu263Ter
ENST00000681037.1:c.*2272T>G	ENSP00000506025.1:n.*2272T>G
ENST00000681063.1:c.600-953T>G	ENSP00000506616.1:n.600-953T>G
ENST00000681209.1:c.*443T>G	ENSP00000505877.1:n.*443T>G
ENST00000681278.1:n.1145T>G
ENST00000681289.1:n.4783T>G
ENST00000681361.1:c.*455T>G	ENSP00000506679.1:n.*455T>G
ENST00000681430.1:c.788T>G	ENSP00000506301.1:p.Leu263Ter
ENST00000681446.1:c.*370T>G	ENSP00000506244.1:n.*370T>G
ENST00000681450.1:c.*459T>G	ENSP00000505660.1:n.*459T>G
ENST00000681548.1:c.*374T>G	ENSP00000505275.1:n.*374T>G
ENST00000681616.1:c.*447T>G	ENSP00000505111.1:n.*447T>G
ENST00000681621.1:c.*372T>G	ENSP00000505770.1:n.*372T>G
ENST00000681680.1:n.2883T>G
ENST00000681720.1:c.*243T>G	ENSP00000505438.1:n.*243T>G
ENST00000681730.1:n.1010T>G
ENST00000681790.1:c.530T>G	ENSP00000505130.1:p.Leu177Ter
ENST00000681837.1:n.1404T>G
ENST00000681913.1:n.2912T>G
ENST00000681916.1:c.*556T>G	ENSP00000506477.1:n.*556T>G
ENST00000681930.1:n.2912T>G
ENST00000370834.9:c.887T>G	ENSP00000359871.5:p.Leu296Ter
ENST00000370841.8:c.788T>G	ENSP00000359878.4:p.Leu263Ter
ENST00000420607.6:c.800T>G	ENSP00000409612.2:p.Leu267Ter
ENST00000525808.5:c.*374T>G	ENSP00000434823.1:n.*374T>G
ENST00000526129.5:c.*572T>G	ENSP00000434092.1:n.*572T>G
ENST00000526196.5:c.*556T>G	ENSP00000431953.1:n.*556T>G
ENST00000526930.1:n.561T>G
ENST00000528016.1:c.2T>G	ENSP00000434284.1:p.Leu1Ter
ENST00000529059.5:n.697T>G
ENST00000530953.6:c.*285T>G	ENSP00000431372.1:n.*285T>G
ENST00000532207.5:n.518T>G
ENST00000532509.5:c.*552T>G	ENSP00000432522.1:n.*552T>G
ENST00000534334.5:c.*372T>G	ENSP00000435584.1:n.*372T>G
ENST00000541113.5:c.680T>G	ENSP00000442324.1:p.Leu227Ter
NM_000016.5:c.788T>G	NP_000007.1:p.Leu263Ter
NM_001127328.2:c.800T>G	NP_001120800.1:p.Leu267Ter
NM_001286042.1:c.680T>G	NP_001272971.1:p.Leu227Ter
NM_001286043.1:c.887T>G	NP_001272972.1:p.Leu296Ter
NM_001286044.1:c.221T>G	NP_001272973.1:p.Leu74Ter
NM_000016.6:c.788T>G MANE Select	NP_000007.1:p.Leu263Ter
NM_001127328.3:c.800T>G	NP_001120800.1:p.Leu267Ter
NM_001286042.2:c.680T>G	NP_001272971.1:p.Leu227Ter
NM_001286043.2:c.887T>G	NP_001272972.1:p.Leu296Ter
NM_001286044.2:c.221T>G	NP_001272973.1:p.Leu74Ter