Canonical Allele Identifier: CA418545041

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216196C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750511C>T , CM000663.2:g.75750511C>T	GRCh38
NC_000001.10:g.76216196C>T , CM000663.1:g.76216196C>T	GRCh37
NC_000001.9:g.75988784C>T	NCBI36
NG_007045.2:g.31154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.910C>T MANE Select	ENSP00000359878.5:p.Leu304=
ENST00000473018.3:n.3034C>T
ENST00000532207.6:n.1799C>T
ENST00000541113.6:c.849+952C>T	ENSP00000442324.2:n.849+952C>T
ENST00000679509.1:n.1872C>T
ENST00000679530.1:c.*678C>T	ENSP00000506454.1:n.*678C>T
ENST00000679615.1:n.2925C>T
ENST00000679687.1:c.472C>T	ENSP00000506598.1:p.Leu158=
ENST00000679704.1:c.*676C>T	ENSP00000505117.1:n.*676C>T
ENST00000679709.1:c.*873C>T	ENSP00000506623.1:n.*873C>T
ENST00000679976.1:c.*494C>T	ENSP00000505565.1:n.*494C>T
ENST00000680166.1:n.4199C>T
ENST00000680315.1:n.793C>T
ENST00000680517.1:c.*298C>T	ENSP00000505803.1:n.*298C>T
ENST00000680582.1:n.1872C>T
ENST00000680613.1:c.*281C>T	ENSP00000506114.1:n.*281C>T
ENST00000680662.1:c.*824C>T	ENSP00000505080.1:n.*824C>T
ENST00000680691.1:c.*573C>T	ENSP00000506487.1:n.*573C>T
ENST00000680694.1:c.*498C>T	ENSP00000505658.1:n.*498C>T
ENST00000680743.1:c.*577C>T	ENSP00000505073.1:n.*577C>T
ENST00000680749.1:c.*195C>T	ENSP00000505122.1:n.*195C>T
ENST00000680798.1:c.*385C>T	ENSP00000505670.1:n.*385C>T
ENST00000680805.1:c.769C>T	ENSP00000505447.1:p.Leu257=
ENST00000680844.1:c.*694C>T	ENSP00000506541.1:n.*694C>T
ENST00000680948.1:c.*777C>T	ENSP00000505441.1:n.*777C>T
ENST00000680964.1:c.910C>T	ENSP00000505961.1:p.Leu304=
ENST00000681037.1:c.*2394C>T	ENSP00000506025.1:n.*2394C>T
ENST00000681063.1:c.*57C>T	ENSP00000506616.1:n.*57C>T
ENST00000681209.1:c.*565C>T	ENSP00000505877.1:n.*565C>T
ENST00000681278.1:n.1267C>T
ENST00000681289.1:n.4905C>T
ENST00000681361.1:c.*577C>T	ENSP00000506679.1:n.*577C>T
ENST00000681430.1:c.910C>T	ENSP00000506301.1:p.Leu304=
ENST00000681446.1:c.*492C>T	ENSP00000506244.1:n.*492C>T
ENST00000681450.1:c.*581C>T	ENSP00000505660.1:n.*581C>T
ENST00000681548.1:c.*496C>T	ENSP00000505275.1:n.*496C>T
ENST00000681616.1:c.*569C>T	ENSP00000505111.1:n.*569C>T
ENST00000681621.1:c.*494C>T	ENSP00000505770.1:n.*494C>T
ENST00000681680.1:n.3005C>T
ENST00000681720.1:c.*365C>T	ENSP00000505438.1:n.*365C>T
ENST00000681730.1:n.1132C>T
ENST00000681790.1:c.652C>T	ENSP00000505130.1:p.Leu218=
ENST00000681837.1:n.1526C>T
ENST00000681913.1:n.3034C>T
ENST00000681916.1:c.*678C>T	ENSP00000506477.1:n.*678C>T
ENST00000681930.1:n.3034C>T
ENST00000370834.9:c.1009C>T	ENSP00000359871.5:p.Leu337=
ENST00000370841.8:c.910C>T	ENSP00000359878.4:p.Leu304=
ENST00000420607.6:c.922C>T	ENSP00000409612.2:p.Leu308=
ENST00000481374.1:n.61C>T
ENST00000525808.5:c.*496C>T	ENSP00000434823.1:n.*496C>T
ENST00000526129.5:c.*694C>T	ENSP00000434092.1:n.*694C>T
ENST00000526196.5:c.*678C>T	ENSP00000431953.1:n.*678C>T
ENST00000528016.1:c.124C>T	ENSP00000434284.1:p.Leu42=
ENST00000529059.5:n.819C>T
ENST00000532207.5:n.640C>T
ENST00000534334.5:c.*494C>T	ENSP00000435584.1:n.*494C>T
ENST00000541113.5:c.802C>T	ENSP00000442324.1:p.Leu268=
NM_000016.5:c.910C>T	NP_000007.1:p.Leu304=
NM_001127328.2:c.922C>T	NP_001120800.1:p.Leu308=
NM_001286042.1:c.802C>T	NP_001272971.1:p.Leu268=
NM_001286043.1:c.1009C>T	NP_001272972.1:p.Leu337=
NM_001286044.1:c.343C>T	NP_001272973.1:p.Leu115=
NM_000016.6:c.910C>T MANE Select	NP_000007.1:p.Leu304=
NM_001127328.3:c.922C>T	NP_001120800.1:p.Leu308=
NM_001286042.2:c.802C>T	NP_001272971.1:p.Leu268=
NM_001286043.2:c.1009C>T	NP_001272972.1:p.Leu337=
NM_001286044.2:c.343C>T	NP_001272973.1:p.Leu115=