Canonical Allele Identifier: CA340816767

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215212G>T (hg19) ; chr1:g.75749527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749527G>T , CM000663.2:g.75749527G>T	GRCh38
NC_000001.10:g.76215212G>T , CM000663.1:g.76215212G>T	GRCh37
NC_000001.9:g.75987800G>T	NCBI36
NG_007045.2:g.30170G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.817G>T MANE Select	ENSP00000359878.5:p.Ala273Ser
ENST00000473018.3:n.2941G>T
ENST00000532207.6:n.1706G>T
ENST00000541113.6:c.817G>T	ENSP00000442324.2:p.Ala273Ser
ENST00000679509.1:n.1779G>T
ENST00000679530.1:c.*585G>T	ENSP00000506454.1:n.*585G>T
ENST00000679615.1:n.2832G>T
ENST00000679687.1:c.379G>T	ENSP00000506598.1:p.Ala127Ser
ENST00000679704.1:c.*583G>T	ENSP00000505117.1:n.*583G>T
ENST00000679709.1:c.*780G>T	ENSP00000506623.1:n.*780G>T
ENST00000679976.1:c.*401G>T	ENSP00000505565.1:n.*401G>T
ENST00000680166.1:n.4106G>T
ENST00000680517.1:c.*205G>T	ENSP00000505803.1:n.*205G>T
ENST00000680582.1:n.1779G>T
ENST00000680613.1:c.*188G>T	ENSP00000506114.1:n.*188G>T
ENST00000680662.1:c.*731G>T	ENSP00000505080.1:n.*731G>T
ENST00000680691.1:c.*480G>T	ENSP00000506487.1:n.*480G>T
ENST00000680694.1:c.*405G>T	ENSP00000505658.1:n.*405G>T
ENST00000680743.1:c.*484G>T	ENSP00000505073.1:n.*484G>T
ENST00000680749.1:c.*102G>T	ENSP00000505122.1:n.*102G>T
ENST00000680798.1:c.*292G>T	ENSP00000505670.1:n.*292G>T
ENST00000680805.1:c.709-924G>T	ENSP00000505447.1:n.709-924G>T
ENST00000680844.1:c.*601G>T	ENSP00000506541.1:n.*601G>T
ENST00000680948.1:c.*684G>T	ENSP00000505441.1:n.*684G>T
ENST00000680964.1:c.817G>T	ENSP00000505961.1:p.Ala273Ser
ENST00000681037.1:c.*2301G>T	ENSP00000506025.1:n.*2301G>T
ENST00000681063.1:c.600-924G>T	ENSP00000506616.1:n.600-924G>T
ENST00000681209.1:c.*472G>T	ENSP00000505877.1:n.*472G>T
ENST00000681278.1:n.1174G>T
ENST00000681289.1:n.4812G>T
ENST00000681361.1:c.*484G>T	ENSP00000506679.1:n.*484G>T
ENST00000681430.1:c.817G>T	ENSP00000506301.1:p.Ala273Ser
ENST00000681446.1:c.*399G>T	ENSP00000506244.1:n.*399G>T
ENST00000681450.1:c.*488G>T	ENSP00000505660.1:n.*488G>T
ENST00000681548.1:c.*403G>T	ENSP00000505275.1:n.*403G>T
ENST00000681616.1:c.*476G>T	ENSP00000505111.1:n.*476G>T
ENST00000681621.1:c.*401G>T	ENSP00000505770.1:n.*401G>T
ENST00000681680.1:n.2912G>T
ENST00000681720.1:c.*272G>T	ENSP00000505438.1:n.*272G>T
ENST00000681730.1:n.1039G>T
ENST00000681790.1:c.559G>T	ENSP00000505130.1:p.Ala187Ser
ENST00000681837.1:n.1433G>T
ENST00000681913.1:n.2941G>T
ENST00000681916.1:c.*585G>T	ENSP00000506477.1:n.*585G>T
ENST00000681930.1:n.2941G>T
ENST00000370834.9:c.916G>T	ENSP00000359871.5:p.Ala306Ser
ENST00000370841.8:c.817G>T	ENSP00000359878.4:p.Ala273Ser
ENST00000420607.6:c.829G>T	ENSP00000409612.2:p.Ala277Ser
ENST00000525808.5:c.*403G>T	ENSP00000434823.1:n.*403G>T
ENST00000526129.5:c.*601G>T	ENSP00000434092.1:n.*601G>T
ENST00000526196.5:c.*585G>T	ENSP00000431953.1:n.*585G>T
ENST00000528016.1:c.31G>T	ENSP00000434284.1:p.Ala11Ser
ENST00000529059.5:n.726G>T
ENST00000530953.6:c.*314G>T	ENSP00000431372.1:n.*314G>T
ENST00000532207.5:n.547G>T
ENST00000532509.5:c.*581G>T	ENSP00000432522.1:n.*581G>T
ENST00000534334.5:c.*401G>T	ENSP00000435584.1:n.*401G>T
ENST00000541113.5:c.709G>T	ENSP00000442324.1:p.Ala237Ser
NM_000016.5:c.817G>T	NP_000007.1:p.Ala273Ser
NM_001127328.2:c.829G>T	NP_001120800.1:p.Ala277Ser
NM_001286042.1:c.709G>T	NP_001272971.1:p.Ala237Ser
NM_001286043.1:c.916G>T	NP_001272972.1:p.Ala306Ser
NM_001286044.1:c.250G>T	NP_001272973.1:p.Ala84Ser
NM_000016.6:c.817G>T MANE Select	NP_000007.1:p.Ala273Ser
NM_001127328.3:c.829G>T	NP_001120800.1:p.Ala277Ser
NM_001286042.2:c.709G>T	NP_001272971.1:p.Ala237Ser
NM_001286043.2:c.916G>T	NP_001272972.1:p.Ala306Ser
NM_001286044.2:c.250G>T	NP_001272973.1:p.Ala84Ser