Canonical Allele Identifier: CA340817909

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226840G>T (hg19) ; chr1:g.75761155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761155G>T , CM000663.2:g.75761155G>T	GRCh38
NC_000001.10:g.76226840G>T , CM000663.1:g.76226840G>T	GRCh37
NC_000001.9:g.75999428G>T	NCBI36
NG_007045.2:g.41798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.979G>T MANE Select	ENSP00000359878.5:p.Ala327Ser
ENST00000473018.3:n.3103G>T
ENST00000532207.6:n.1990G>T
ENST00000541113.6:c.883G>T	ENSP00000442324.2:p.Ala295Ser
ENST00000679509.1:n.1941G>T
ENST00000679530.1:c.*747G>T	ENSP00000506454.1:n.*747G>T
ENST00000679615.1:n.2994G>T
ENST00000679687.1:c.541G>T	ENSP00000506598.1:p.Ala181Ser
ENST00000679704.1:c.*745G>T	ENSP00000505117.1:n.*745G>T
ENST00000679709.1:c.*942G>T	ENSP00000506623.1:n.*942G>T
ENST00000679976.1:c.*563G>T	ENSP00000505565.1:n.*563G>T
ENST00000680166.1:n.4268G>T
ENST00000680315.1:n.862G>T
ENST00000680517.1:c.*367G>T	ENSP00000505803.1:n.*367G>T
ENST00000680582.1:n.1941G>T
ENST00000680613.1:c.*472G>T	ENSP00000506114.1:n.*472G>T
ENST00000680662.1:c.*893G>T	ENSP00000505080.1:n.*893G>T
ENST00000680691.1:c.*642G>T	ENSP00000506487.1:n.*642G>T
ENST00000680694.1:c.*567G>T	ENSP00000505658.1:n.*567G>T
ENST00000680743.1:c.*768G>T	ENSP00000505073.1:n.*768G>T
ENST00000680749.1:c.*264G>T	ENSP00000505122.1:n.*264G>T
ENST00000680798.1:c.*454G>T	ENSP00000505670.1:n.*454G>T
ENST00000680805.1:c.838G>T	ENSP00000505447.1:p.Ala280Ser
ENST00000680844.1:c.*763G>T	ENSP00000506541.1:n.*763G>T
ENST00000680948.1:c.*846G>T	ENSP00000505441.1:n.*846G>T
ENST00000680964.1:c.*72G>T	ENSP00000505961.1:n.*72G>T
ENST00000681037.1:c.*2463G>T	ENSP00000506025.1:n.*2463G>T
ENST00000681063.1:c.*248G>T	ENSP00000506616.1:n.*248G>T
ENST00000681209.1:c.*634G>T	ENSP00000505877.1:n.*634G>T
ENST00000681278.1:n.1681G>T
ENST00000681289.1:n.4974G>T
ENST00000681361.1:c.*646G>T	ENSP00000506679.1:n.*646G>T
ENST00000681430.1:c.*72G>T	ENSP00000506301.1:n.*72G>T
ENST00000681446.1:c.*683G>T	ENSP00000506244.1:n.*683G>T
ENST00000681450.1:c.*650G>T	ENSP00000505660.1:n.*650G>T
ENST00000681548.1:c.*565G>T	ENSP00000505275.1:n.*565G>T
ENST00000681616.1:c.*638G>T	ENSP00000505111.1:n.*638G>T
ENST00000681621.1:c.*563G>T	ENSP00000505770.1:n.*563G>T
ENST00000681680.1:n.3074G>T
ENST00000681720.1:c.*434G>T	ENSP00000505438.1:n.*434G>T
ENST00000681730.1:n.1201G>T
ENST00000681790.1:c.721G>T	ENSP00000505130.1:p.Ala241Ser
ENST00000681837.1:n.1595G>T
ENST00000681913.1:n.3225G>T
ENST00000681916.1:c.*747G>T	ENSP00000506477.1:n.*747G>T
ENST00000681930.1:n.3103G>T
ENST00000370834.9:c.1078G>T	ENSP00000359871.5:p.Ala360Ser
ENST00000370841.8:c.979G>T	ENSP00000359878.4:p.Ala327Ser
ENST00000420607.6:c.991G>T	ENSP00000409612.2:p.Ala331Ser
ENST00000481374.1:n.252G>T
ENST00000525808.5:c.*565G>T	ENSP00000434823.1:n.*565G>T
ENST00000526129.5:c.*763G>T	ENSP00000434092.1:n.*763G>T
ENST00000526196.5:c.*747G>T	ENSP00000431953.1:n.*747G>T
ENST00000528016.1:c.160-8022G>T	ENSP00000434284.1:n.160-8022G>T
ENST00000529059.5:n.888G>T
ENST00000532207.5:n.709G>T
ENST00000534334.5:c.*720G>T	ENSP00000435584.1:n.*720G>T
ENST00000541113.5:c.871G>T	ENSP00000442324.1:p.Ala291Ser
NM_000016.5:c.979G>T	NP_000007.1:p.Ala327Ser
NM_001127328.2:c.991G>T	NP_001120800.1:p.Ala331Ser
NM_001286042.1:c.871G>T	NP_001272971.1:p.Ala291Ser
NM_001286043.1:c.1078G>T	NP_001272972.1:p.Ala360Ser
NM_001286044.1:c.412G>T	NP_001272973.1:p.Ala138Ser
NM_000016.6:c.979G>T MANE Select	NP_000007.1:p.Ala327Ser
NM_001127328.3:c.991G>T	NP_001120800.1:p.Ala331Ser
NM_001286042.2:c.871G>T	NP_001272971.1:p.Ala291Ser
NM_001286043.2:c.1078G>T	NP_001272972.1:p.Ala360Ser
NM_001286044.2:c.412G>T	NP_001272973.1:p.Ala138Ser