Canonical Allele Identifier: CA340816759

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76215207A>C (hg19) ; chr1:g.75749522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749522A>C , CM000663.2:g.75749522A>C	GRCh38
NC_000001.10:g.76215207A>C , CM000663.1:g.76215207A>C	GRCh37
NC_000001.9:g.75987795A>C	NCBI36
NG_007045.2:g.30165A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.812A>C MANE Select	ENSP00000359878.5:p.Lys271Thr
ENST00000473018.3:n.2936A>C
ENST00000532207.6:n.1701A>C
ENST00000541113.6:c.812A>C	ENSP00000442324.2:p.Lys271Thr
ENST00000679509.1:n.1774A>C
ENST00000679530.1:c.*580A>C	ENSP00000506454.1:n.*580A>C
ENST00000679615.1:n.2827A>C
ENST00000679687.1:c.374A>C	ENSP00000506598.1:p.Lys125Thr
ENST00000679704.1:c.*578A>C	ENSP00000505117.1:n.*578A>C
ENST00000679709.1:c.*775A>C	ENSP00000506623.1:n.*775A>C
ENST00000679976.1:c.*396A>C	ENSP00000505565.1:n.*396A>C
ENST00000680166.1:n.4101A>C
ENST00000680517.1:c.*200A>C	ENSP00000505803.1:n.*200A>C
ENST00000680582.1:n.1774A>C
ENST00000680613.1:c.*183A>C	ENSP00000506114.1:n.*183A>C
ENST00000680662.1:c.*726A>C	ENSP00000505080.1:n.*726A>C
ENST00000680691.1:c.*475A>C	ENSP00000506487.1:n.*475A>C
ENST00000680694.1:c.*400A>C	ENSP00000505658.1:n.*400A>C
ENST00000680743.1:c.*479A>C	ENSP00000505073.1:n.*479A>C
ENST00000680749.1:c.*97A>C	ENSP00000505122.1:n.*97A>C
ENST00000680798.1:c.*287A>C	ENSP00000505670.1:n.*287A>C
ENST00000680805.1:c.709-929A>C	ENSP00000505447.1:n.709-929A>C
ENST00000680844.1:c.*596A>C	ENSP00000506541.1:n.*596A>C
ENST00000680948.1:c.*679A>C	ENSP00000505441.1:n.*679A>C
ENST00000680964.1:c.812A>C	ENSP00000505961.1:p.Lys271Thr
ENST00000681037.1:c.*2296A>C	ENSP00000506025.1:n.*2296A>C
ENST00000681063.1:c.600-929A>C	ENSP00000506616.1:n.600-929A>C
ENST00000681209.1:c.*467A>C	ENSP00000505877.1:n.*467A>C
ENST00000681278.1:n.1169A>C
ENST00000681289.1:n.4807A>C
ENST00000681361.1:c.*479A>C	ENSP00000506679.1:n.*479A>C
ENST00000681430.1:c.812A>C	ENSP00000506301.1:p.Lys271Thr
ENST00000681446.1:c.*394A>C	ENSP00000506244.1:n.*394A>C
ENST00000681450.1:c.*483A>C	ENSP00000505660.1:n.*483A>C
ENST00000681548.1:c.*398A>C	ENSP00000505275.1:n.*398A>C
ENST00000681616.1:c.*471A>C	ENSP00000505111.1:n.*471A>C
ENST00000681621.1:c.*396A>C	ENSP00000505770.1:n.*396A>C
ENST00000681680.1:n.2907A>C
ENST00000681720.1:c.*267A>C	ENSP00000505438.1:n.*267A>C
ENST00000681730.1:n.1034A>C
ENST00000681790.1:c.554A>C	ENSP00000505130.1:p.Lys185Thr
ENST00000681837.1:n.1428A>C
ENST00000681913.1:n.2936A>C
ENST00000681916.1:c.*580A>C	ENSP00000506477.1:n.*580A>C
ENST00000681930.1:n.2936A>C
ENST00000370834.9:c.911A>C	ENSP00000359871.5:p.Lys304Thr
ENST00000370841.8:c.812A>C	ENSP00000359878.4:p.Lys271Thr
ENST00000420607.6:c.824A>C	ENSP00000409612.2:p.Lys275Thr
ENST00000525808.5:c.*398A>C	ENSP00000434823.1:n.*398A>C
ENST00000526129.5:c.*596A>C	ENSP00000434092.1:n.*596A>C
ENST00000526196.5:c.*580A>C	ENSP00000431953.1:n.*580A>C
ENST00000528016.1:c.26A>C	ENSP00000434284.1:p.Lys9Thr
ENST00000529059.5:n.721A>C
ENST00000530953.6:c.*309A>C	ENSP00000431372.1:n.*309A>C
ENST00000532207.5:n.542A>C
ENST00000532509.5:c.*576A>C	ENSP00000432522.1:n.*576A>C
ENST00000534334.5:c.*396A>C	ENSP00000435584.1:n.*396A>C
ENST00000541113.5:c.704A>C	ENSP00000442324.1:p.Lys235Thr
NM_000016.5:c.812A>C	NP_000007.1:p.Lys271Thr
NM_001127328.2:c.824A>C	NP_001120800.1:p.Lys275Thr
NM_001286042.1:c.704A>C	NP_001272971.1:p.Lys235Thr
NM_001286043.1:c.911A>C	NP_001272972.1:p.Lys304Thr
NM_001286044.1:c.245A>C	NP_001272973.1:p.Lys82Thr
NM_000016.6:c.812A>C MANE Select	NP_000007.1:p.Lys271Thr
NM_001127328.3:c.824A>C	NP_001120800.1:p.Lys275Thr
NM_001286042.2:c.704A>C	NP_001272971.1:p.Lys235Thr
NM_001286043.2:c.911A>C	NP_001272972.1:p.Lys304Thr
NM_001286044.2:c.245A>C	NP_001272973.1:p.Lys82Thr