Canonical Allele Identifier: CA340816570

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215134A>T (hg19) ; chr1:g.75749449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749449A>T , CM000663.2:g.75749449A>T	GRCh38
NC_000001.10:g.76215134A>T , CM000663.1:g.76215134A>T	GRCh37
NC_000001.9:g.75987722A>T	NCBI36
NG_007045.2:g.30092A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.739A>T MANE Select	ENSP00000359878.5:p.Thr247Ser
ENST00000473018.3:n.2863A>T
ENST00000532207.6:n.1628A>T
ENST00000541113.6:c.739A>T	ENSP00000442324.2:p.Thr247Ser
ENST00000679509.1:n.1701A>T
ENST00000679530.1:c.*507A>T	ENSP00000506454.1:n.*507A>T
ENST00000679615.1:n.2754A>T
ENST00000679687.1:c.301A>T	ENSP00000506598.1:p.Thr101Ser
ENST00000679704.1:c.*505A>T	ENSP00000505117.1:n.*505A>T
ENST00000679709.1:c.*702A>T	ENSP00000506623.1:n.*702A>T
ENST00000679976.1:c.*323A>T	ENSP00000505565.1:n.*323A>T
ENST00000680166.1:n.4028A>T
ENST00000680517.1:c.*127A>T	ENSP00000505803.1:n.*127A>T
ENST00000680582.1:n.1701A>T
ENST00000680613.1:c.*110A>T	ENSP00000506114.1:n.*110A>T
ENST00000680662.1:c.*653A>T	ENSP00000505080.1:n.*653A>T
ENST00000680691.1:c.*402A>T	ENSP00000506487.1:n.*402A>T
ENST00000680694.1:c.*327A>T	ENSP00000505658.1:n.*327A>T
ENST00000680743.1:c.*406A>T	ENSP00000505073.1:n.*406A>T
ENST00000680749.1:c.*24A>T	ENSP00000505122.1:n.*24A>T
ENST00000680798.1:c.*214A>T	ENSP00000505670.1:n.*214A>T
ENST00000680805.1:c.709-1002A>T	ENSP00000505447.1:n.709-1002A>T
ENST00000680844.1:c.*523A>T	ENSP00000506541.1:n.*523A>T
ENST00000680948.1:c.*606A>T	ENSP00000505441.1:n.*606A>T
ENST00000680964.1:c.739A>T	ENSP00000505961.1:p.Thr247Ser
ENST00000681037.1:c.*2223A>T	ENSP00000506025.1:n.*2223A>T
ENST00000681063.1:c.600-1002A>T	ENSP00000506616.1:n.600-1002A>T
ENST00000681209.1:c.*394A>T	ENSP00000505877.1:n.*394A>T
ENST00000681278.1:n.1096A>T
ENST00000681289.1:n.4734A>T
ENST00000681361.1:c.*406A>T	ENSP00000506679.1:n.*406A>T
ENST00000681430.1:c.739A>T	ENSP00000506301.1:p.Thr247Ser
ENST00000681446.1:c.*321A>T	ENSP00000506244.1:n.*321A>T
ENST00000681450.1:c.*410A>T	ENSP00000505660.1:n.*410A>T
ENST00000681548.1:c.*325A>T	ENSP00000505275.1:n.*325A>T
ENST00000681616.1:c.*398A>T	ENSP00000505111.1:n.*398A>T
ENST00000681621.1:c.*323A>T	ENSP00000505770.1:n.*323A>T
ENST00000681680.1:n.2834A>T
ENST00000681720.1:c.*194A>T	ENSP00000505438.1:n.*194A>T
ENST00000681730.1:n.961A>T
ENST00000681790.1:c.481A>T	ENSP00000505130.1:p.Thr161Ser
ENST00000681837.1:n.1355A>T
ENST00000681913.1:n.2863A>T
ENST00000681916.1:c.*507A>T	ENSP00000506477.1:n.*507A>T
ENST00000681930.1:n.2863A>T
ENST00000370834.9:c.838A>T	ENSP00000359871.5:p.Thr280Ser
ENST00000370841.8:c.739A>T	ENSP00000359878.4:p.Thr247Ser
ENST00000420607.6:c.751A>T	ENSP00000409612.2:p.Thr251Ser
ENST00000525808.5:c.*325A>T	ENSP00000434823.1:n.*325A>T
ENST00000526129.5:c.*523A>T	ENSP00000434092.1:n.*523A>T
ENST00000526196.5:c.*507A>T	ENSP00000431953.1:n.*507A>T
ENST00000526930.1:n.512A>T
ENST00000529059.5:n.648A>T
ENST00000530953.6:c.*236A>T	ENSP00000431372.1:n.*236A>T
ENST00000532207.5:n.469A>T
ENST00000532509.5:c.*503A>T	ENSP00000432522.1:n.*503A>T
ENST00000534334.5:c.*323A>T	ENSP00000435584.1:n.*323A>T
ENST00000541113.5:c.631A>T	ENSP00000442324.1:p.Thr211Ser
NM_000016.5:c.739A>T	NP_000007.1:p.Thr247Ser
NM_001127328.2:c.751A>T	NP_001120800.1:p.Thr251Ser
NM_001286042.1:c.631A>T	NP_001272971.1:p.Thr211Ser
NM_001286043.1:c.838A>T	NP_001272972.1:p.Thr280Ser
NM_001286044.1:c.172A>T	NP_001272973.1:p.Thr58Ser
NM_000016.6:c.739A>T MANE Select	NP_000007.1:p.Thr247Ser
NM_001127328.3:c.751A>T	NP_001120800.1:p.Thr251Ser
NM_001286042.2:c.631A>T	NP_001272971.1:p.Thr211Ser
NM_001286043.2:c.838A>T	NP_001272972.1:p.Thr280Ser
NM_001286044.2:c.172A>T	NP_001272973.1:p.Thr58Ser