Canonical Allele Identifier: CA340817919

Gene: ACADM

Linked Data

• dbSNP Id: rs1648826444
• MyVariant Identifiers: chr1:g.76226845G>T (hg19) ; chr1:g.75761160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761160G>T , CM000663.2:g.75761160G>T	GRCh38
NC_000001.10:g.76226845G>T , CM000663.1:g.76226845G>T	GRCh37
NC_000001.9:g.75999433G>T	NCBI36
NG_007045.2:g.41803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.984G>T MANE Select	ENSP00000359878.5:p.Met328Ile
ENST00000473018.3:n.3108G>T
ENST00000532207.6:n.1995G>T
ENST00000541113.6:c.888G>T	ENSP00000442324.2:p.Met296Ile
ENST00000679509.1:n.1946G>T
ENST00000679530.1:c.*752G>T	ENSP00000506454.1:n.*752G>T
ENST00000679615.1:n.2999G>T
ENST00000679687.1:c.546G>T	ENSP00000506598.1:p.Met182Ile
ENST00000679704.1:c.*750G>T	ENSP00000505117.1:n.*750G>T
ENST00000679709.1:c.*947G>T	ENSP00000506623.1:n.*947G>T
ENST00000679976.1:c.*568G>T	ENSP00000505565.1:n.*568G>T
ENST00000680166.1:n.4273G>T
ENST00000680315.1:n.867G>T
ENST00000680517.1:c.*372G>T	ENSP00000505803.1:n.*372G>T
ENST00000680582.1:n.1946G>T
ENST00000680613.1:c.*477G>T	ENSP00000506114.1:n.*477G>T
ENST00000680662.1:c.*898G>T	ENSP00000505080.1:n.*898G>T
ENST00000680691.1:c.*647G>T	ENSP00000506487.1:n.*647G>T
ENST00000680694.1:c.*572G>T	ENSP00000505658.1:n.*572G>T
ENST00000680743.1:c.*773G>T	ENSP00000505073.1:n.*773G>T
ENST00000680749.1:c.*269G>T	ENSP00000505122.1:n.*269G>T
ENST00000680798.1:c.*459G>T	ENSP00000505670.1:n.*459G>T
ENST00000680805.1:c.843G>T	ENSP00000505447.1:p.Met281Ile
ENST00000680844.1:c.*768G>T	ENSP00000506541.1:n.*768G>T
ENST00000680948.1:c.*851G>T	ENSP00000505441.1:n.*851G>T
ENST00000680964.1:c.*77G>T	ENSP00000505961.1:n.*77G>T
ENST00000681037.1:c.*2468G>T	ENSP00000506025.1:n.*2468G>T
ENST00000681063.1:c.*253G>T	ENSP00000506616.1:n.*253G>T
ENST00000681209.1:c.*639G>T	ENSP00000505877.1:n.*639G>T
ENST00000681278.1:n.1686G>T
ENST00000681289.1:n.4979G>T
ENST00000681361.1:c.*651G>T	ENSP00000506679.1:n.*651G>T
ENST00000681430.1:c.*77G>T	ENSP00000506301.1:n.*77G>T
ENST00000681446.1:c.*688G>T	ENSP00000506244.1:n.*688G>T
ENST00000681450.1:c.*655G>T	ENSP00000505660.1:n.*655G>T
ENST00000681548.1:c.*570G>T	ENSP00000505275.1:n.*570G>T
ENST00000681616.1:c.*643G>T	ENSP00000505111.1:n.*643G>T
ENST00000681621.1:c.*568G>T	ENSP00000505770.1:n.*568G>T
ENST00000681680.1:n.3079G>T
ENST00000681720.1:c.*439G>T	ENSP00000505438.1:n.*439G>T
ENST00000681730.1:n.1206G>T
ENST00000681790.1:c.726G>T	ENSP00000505130.1:p.Met242Ile
ENST00000681837.1:n.1600G>T
ENST00000681913.1:n.3230G>T
ENST00000681916.1:c.*752G>T	ENSP00000506477.1:n.*752G>T
ENST00000681930.1:n.3108G>T
ENST00000370834.9:c.1083G>T	ENSP00000359871.5:p.Met361Ile
ENST00000370841.8:c.984G>T	ENSP00000359878.4:p.Met328Ile
ENST00000420607.6:c.996G>T	ENSP00000409612.2:p.Met332Ile
ENST00000481374.1:n.257G>T
ENST00000525808.5:c.*570G>T	ENSP00000434823.1:n.*570G>T
ENST00000526129.5:c.*768G>T	ENSP00000434092.1:n.*768G>T
ENST00000526196.5:c.*752G>T	ENSP00000431953.1:n.*752G>T
ENST00000528016.1:c.160-8017G>T	ENSP00000434284.1:n.160-8017G>T
ENST00000529059.5:n.893G>T
ENST00000532207.5:n.714G>T
ENST00000534334.5:c.*725G>T	ENSP00000435584.1:n.*725G>T
ENST00000541113.5:c.876G>T	ENSP00000442324.1:p.Met292Ile
NM_000016.5:c.984G>T	NP_000007.1:p.Met328Ile
NM_001127328.2:c.996G>T	NP_001120800.1:p.Met332Ile
NM_001286042.1:c.876G>T	NP_001272971.1:p.Met292Ile
NM_001286043.1:c.1083G>T	NP_001272972.1:p.Met361Ile
NM_001286044.1:c.417G>T	NP_001272973.1:p.Met139Ile
NM_000016.6:c.984G>T MANE Select	NP_000007.1:p.Met328Ile
NM_001127328.3:c.996G>T	NP_001120800.1:p.Met332Ile
NM_001286042.2:c.876G>T	NP_001272971.1:p.Met292Ile
NM_001286043.2:c.1083G>T	NP_001272972.1:p.Met361Ile
NM_001286044.2:c.417G>T	NP_001272973.1:p.Met139Ile