Canonical Allele Identifier: CA340817945

Gene: ACADM

Linked Data

• gnomAD v4: 1-75761171-T-C
• MyVariant Identifiers: chr1:g.76226856T>C (hg19) ; chr1:g.75761171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761171T>C , CM000663.2:g.75761171T>C	GRCh38
NC_000001.10:g.76226856T>C , CM000663.1:g.76226856T>C	GRCh37
NC_000001.9:g.75999444T>C	NCBI36
NG_007045.2:g.41814T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.995T>C MANE Select	ENSP00000359878.5:p.Leu332Pro
ENST00000473018.3:n.3119T>C
ENST00000532207.6:n.2006T>C
ENST00000541113.6:c.899T>C	ENSP00000442324.2:p.Leu300Pro
ENST00000679509.1:n.1957T>C
ENST00000679530.1:c.*763T>C	ENSP00000506454.1:n.*763T>C
ENST00000679615.1:n.3010T>C
ENST00000679687.1:c.557T>C	ENSP00000506598.1:p.Leu186Pro
ENST00000679704.1:c.*761T>C	ENSP00000505117.1:n.*761T>C
ENST00000679709.1:c.*958T>C	ENSP00000506623.1:n.*958T>C
ENST00000679976.1:c.*579T>C	ENSP00000505565.1:n.*579T>C
ENST00000680166.1:n.4284T>C
ENST00000680315.1:n.878T>C
ENST00000680517.1:c.*383T>C	ENSP00000505803.1:n.*383T>C
ENST00000680582.1:n.1957T>C
ENST00000680613.1:c.*488T>C	ENSP00000506114.1:n.*488T>C
ENST00000680662.1:c.*909T>C	ENSP00000505080.1:n.*909T>C
ENST00000680691.1:c.*658T>C	ENSP00000506487.1:n.*658T>C
ENST00000680694.1:c.*583T>C	ENSP00000505658.1:n.*583T>C
ENST00000680743.1:c.*784T>C	ENSP00000505073.1:n.*784T>C
ENST00000680749.1:c.*280T>C	ENSP00000505122.1:n.*280T>C
ENST00000680798.1:c.*470T>C	ENSP00000505670.1:n.*470T>C
ENST00000680805.1:c.854T>C	ENSP00000505447.1:p.Leu285Pro
ENST00000680844.1:c.*779T>C	ENSP00000506541.1:n.*779T>C
ENST00000680948.1:c.*862T>C	ENSP00000505441.1:n.*862T>C
ENST00000680964.1:c.*88T>C	ENSP00000505961.1:n.*88T>C
ENST00000681037.1:c.*2479T>C	ENSP00000506025.1:n.*2479T>C
ENST00000681063.1:c.*264T>C	ENSP00000506616.1:n.*264T>C
ENST00000681209.1:c.*650T>C	ENSP00000505877.1:n.*650T>C
ENST00000681278.1:n.1697T>C
ENST00000681289.1:n.4990T>C
ENST00000681361.1:c.*662T>C	ENSP00000506679.1:n.*662T>C
ENST00000681430.1:c.*88T>C	ENSP00000506301.1:n.*88T>C
ENST00000681446.1:c.*699T>C	ENSP00000506244.1:n.*699T>C
ENST00000681450.1:c.*666T>C	ENSP00000505660.1:n.*666T>C
ENST00000681548.1:c.*581T>C	ENSP00000505275.1:n.*581T>C
ENST00000681616.1:c.*654T>C	ENSP00000505111.1:n.*654T>C
ENST00000681621.1:c.*579T>C	ENSP00000505770.1:n.*579T>C
ENST00000681680.1:n.3090T>C
ENST00000681720.1:c.*450T>C	ENSP00000505438.1:n.*450T>C
ENST00000681730.1:n.1217T>C
ENST00000681790.1:c.737T>C	ENSP00000505130.1:p.Leu246Pro
ENST00000681837.1:n.1611T>C
ENST00000681913.1:n.3241T>C
ENST00000681916.1:c.*763T>C	ENSP00000506477.1:n.*763T>C
ENST00000681930.1:n.3119T>C
ENST00000370834.9:c.1094T>C	ENSP00000359871.5:p.Leu365Pro
ENST00000370841.8:c.995T>C	ENSP00000359878.4:p.Leu332Pro
ENST00000420607.6:c.1007T>C	ENSP00000409612.2:p.Leu336Pro
ENST00000481374.1:n.268T>C
ENST00000525808.5:c.*581T>C	ENSP00000434823.1:n.*581T>C
ENST00000526129.5:c.*779T>C	ENSP00000434092.1:n.*779T>C
ENST00000526196.5:c.*763T>C	ENSP00000431953.1:n.*763T>C
ENST00000528016.1:c.160-8006T>C	ENSP00000434284.1:n.160-8006T>C
ENST00000529059.5:n.904T>C
ENST00000532207.5:n.725T>C
ENST00000534334.5:c.*736T>C	ENSP00000435584.1:n.*736T>C
ENST00000541113.5:c.887T>C	ENSP00000442324.1:p.Leu296Pro
NM_000016.5:c.995T>C	NP_000007.1:p.Leu332Pro
NM_001127328.2:c.1007T>C	NP_001120800.1:p.Leu336Pro
NM_001286042.1:c.887T>C	NP_001272971.1:p.Leu296Pro
NM_001286043.1:c.1094T>C	NP_001272972.1:p.Leu365Pro
NM_001286044.1:c.428T>C	NP_001272973.1:p.Leu143Pro
NM_000016.6:c.995T>C MANE Select	NP_000007.1:p.Leu332Pro
NM_001127328.3:c.1007T>C	NP_001120800.1:p.Leu336Pro
NM_001286042.2:c.887T>C	NP_001272971.1:p.Leu296Pro
NM_001286043.2:c.1094T>C	NP_001272972.1:p.Leu365Pro
NM_001286044.2:c.428T>C	NP_001272973.1:p.Leu143Pro