Canonical Allele Identifier: CA340816556

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215128T>A (hg19) ; chr1:g.75749443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749443T>A , CM000663.2:g.75749443T>A	GRCh38
NC_000001.10:g.76215128T>A , CM000663.1:g.76215128T>A	GRCh37
NC_000001.9:g.75987716T>A	NCBI36
NG_007045.2:g.30086T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.733T>A MANE Select	ENSP00000359878.5:p.Ser245Thr
ENST00000473018.3:n.2857T>A
ENST00000532207.6:n.1622T>A
ENST00000541113.6:c.733T>A	ENSP00000442324.2:p.Ser245Thr
ENST00000679509.1:n.1695T>A
ENST00000679530.1:c.*501T>A	ENSP00000506454.1:n.*501T>A
ENST00000679615.1:n.2748T>A
ENST00000679687.1:c.295T>A	ENSP00000506598.1:p.Ser99Thr
ENST00000679704.1:c.*499T>A	ENSP00000505117.1:n.*499T>A
ENST00000679709.1:c.*696T>A	ENSP00000506623.1:n.*696T>A
ENST00000679976.1:c.*317T>A	ENSP00000505565.1:n.*317T>A
ENST00000680166.1:n.4022T>A
ENST00000680517.1:c.*121T>A	ENSP00000505803.1:n.*121T>A
ENST00000680582.1:n.1695T>A
ENST00000680613.1:c.*104T>A	ENSP00000506114.1:n.*104T>A
ENST00000680662.1:c.*647T>A	ENSP00000505080.1:n.*647T>A
ENST00000680691.1:c.*396T>A	ENSP00000506487.1:n.*396T>A
ENST00000680694.1:c.*321T>A	ENSP00000505658.1:n.*321T>A
ENST00000680743.1:c.*400T>A	ENSP00000505073.1:n.*400T>A
ENST00000680749.1:c.*18T>A	ENSP00000505122.1:n.*18T>A
ENST00000680798.1:c.*208T>A	ENSP00000505670.1:n.*208T>A
ENST00000680805.1:c.709-1008T>A	ENSP00000505447.1:n.709-1008T>A
ENST00000680844.1:c.*517T>A	ENSP00000506541.1:n.*517T>A
ENST00000680948.1:c.*600T>A	ENSP00000505441.1:n.*600T>A
ENST00000680964.1:c.733T>A	ENSP00000505961.1:p.Ser245Thr
ENST00000681037.1:c.*2217T>A	ENSP00000506025.1:n.*2217T>A
ENST00000681063.1:c.600-1008T>A	ENSP00000506616.1:n.600-1008T>A
ENST00000681209.1:c.*388T>A	ENSP00000505877.1:n.*388T>A
ENST00000681278.1:n.1090T>A
ENST00000681289.1:n.4728T>A
ENST00000681361.1:c.*400T>A	ENSP00000506679.1:n.*400T>A
ENST00000681430.1:c.733T>A	ENSP00000506301.1:p.Ser245Thr
ENST00000681446.1:c.*315T>A	ENSP00000506244.1:n.*315T>A
ENST00000681450.1:c.*404T>A	ENSP00000505660.1:n.*404T>A
ENST00000681548.1:c.*319T>A	ENSP00000505275.1:n.*319T>A
ENST00000681616.1:c.*392T>A	ENSP00000505111.1:n.*392T>A
ENST00000681621.1:c.*317T>A	ENSP00000505770.1:n.*317T>A
ENST00000681680.1:n.2828T>A
ENST00000681720.1:c.*188T>A	ENSP00000505438.1:n.*188T>A
ENST00000681730.1:n.955T>A
ENST00000681790.1:c.475T>A	ENSP00000505130.1:p.Ser159Thr
ENST00000681837.1:n.1349T>A
ENST00000681913.1:n.2857T>A
ENST00000681916.1:c.*501T>A	ENSP00000506477.1:n.*501T>A
ENST00000681930.1:n.2857T>A
ENST00000370834.9:c.832T>A	ENSP00000359871.5:p.Ser278Thr
ENST00000370841.8:c.733T>A	ENSP00000359878.4:p.Ser245Thr
ENST00000420607.6:c.745T>A	ENSP00000409612.2:p.Ser249Thr
ENST00000525808.5:c.*319T>A	ENSP00000434823.1:n.*319T>A
ENST00000526129.5:c.*517T>A	ENSP00000434092.1:n.*517T>A
ENST00000526196.5:c.*501T>A	ENSP00000431953.1:n.*501T>A
ENST00000526930.1:n.506T>A
ENST00000529059.5:n.642T>A
ENST00000530953.6:c.*230T>A	ENSP00000431372.1:n.*230T>A
ENST00000532207.5:n.463T>A
ENST00000532509.5:c.*497T>A	ENSP00000432522.1:n.*497T>A
ENST00000534334.5:c.*317T>A	ENSP00000435584.1:n.*317T>A
ENST00000541113.5:c.625T>A	ENSP00000442324.1:p.Ser209Thr
NM_000016.5:c.733T>A	NP_000007.1:p.Ser245Thr
NM_001127328.2:c.745T>A	NP_001120800.1:p.Ser249Thr
NM_001286042.1:c.625T>A	NP_001272971.1:p.Ser209Thr
NM_001286043.1:c.832T>A	NP_001272972.1:p.Ser278Thr
NM_001286044.1:c.166T>A	NP_001272973.1:p.Ser56Thr
NM_000016.6:c.733T>A MANE Select	NP_000007.1:p.Ser245Thr
NM_001127328.3:c.745T>A	NP_001120800.1:p.Ser249Thr
NM_001286042.2:c.625T>A	NP_001272971.1:p.Ser209Thr
NM_001286043.2:c.832T>A	NP_001272972.1:p.Ser278Thr
NM_001286044.2:c.166T>A	NP_001272973.1:p.Ser56Thr