Canonical Allele Identifier: CA340815959

Gene: ACADM

Linked Data

• gnomAD v4: 1-75745847-C-T
• MyVariant Identifiers: chr1:g.76211532C>T (hg19) ; chr1:g.75745847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745847C>T , CM000663.2:g.75745847C>T	GRCh38
NC_000001.10:g.76211532C>T , CM000663.1:g.76211532C>T	GRCh37
NC_000001.9:g.75984120C>T	NCBI36
NG_007045.2:g.26490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.641C>T MANE Select	ENSP00000359878.5:p.Pro214Leu
ENST00000473018.3:n.2765C>T
ENST00000532207.6:n.1530C>T
ENST00000541113.6:c.641C>T	ENSP00000442324.2:p.Pro214Leu
ENST00000679509.1:n.1603C>T
ENST00000679530.1:c.*409C>T	ENSP00000506454.1:n.*409C>T
ENST00000679615.1:n.2724-3572C>T
ENST00000679687.1:c.203C>T	ENSP00000506598.1:p.Pro68Leu
ENST00000679704.1:c.*407C>T	ENSP00000505117.1:n.*407C>T
ENST00000679709.1:c.*604C>T	ENSP00000506623.1:n.*604C>T
ENST00000679976.1:c.*225C>T	ENSP00000505565.1:n.*225C>T
ENST00000680166.1:n.3930C>T
ENST00000680517.1:c.*97-3572C>T	ENSP00000505803.1:n.*97-3572C>T
ENST00000680582.1:n.1603C>T
ENST00000680613.1:c.*12C>T	ENSP00000506114.1:n.*12C>T
ENST00000680662.1:c.*555C>T	ENSP00000505080.1:n.*555C>T
ENST00000680691.1:c.*304C>T	ENSP00000506487.1:n.*304C>T
ENST00000680694.1:c.*229C>T	ENSP00000505658.1:n.*229C>T
ENST00000680743.1:c.*308C>T	ENSP00000505073.1:n.*308C>T
ENST00000680749.1:c.600-3572C>T	ENSP00000505122.1:n.600-3572C>T
ENST00000680798.1:c.*184-3572C>T	ENSP00000505670.1:n.*184-3572C>T
ENST00000680805.1:c.641C>T	ENSP00000505447.1:p.Pro214Leu
ENST00000680844.1:c.*425C>T	ENSP00000506541.1:n.*425C>T
ENST00000680948.1:c.*508C>T	ENSP00000505441.1:n.*508C>T
ENST00000680964.1:c.641C>T	ENSP00000505961.1:p.Pro214Leu
ENST00000681037.1:c.*2125C>T	ENSP00000506025.1:n.*2125C>T
ENST00000681063.1:c.600-4604C>T	ENSP00000506616.1:n.600-4604C>T
ENST00000681209.1:c.*364-3572C>T	ENSP00000505877.1:n.*364-3572C>T
ENST00000681278.1:n.998C>T
ENST00000681289.1:n.4636C>T
ENST00000681361.1:c.*308C>T	ENSP00000506679.1:n.*308C>T
ENST00000681430.1:c.641C>T	ENSP00000506301.1:p.Pro214Leu
ENST00000681446.1:c.*223C>T	ENSP00000506244.1:n.*223C>T
ENST00000681450.1:c.*312C>T	ENSP00000505660.1:n.*312C>T
ENST00000681548.1:c.*227C>T	ENSP00000505275.1:n.*227C>T
ENST00000681616.1:c.*368-3572C>T	ENSP00000505111.1:n.*368-3572C>T
ENST00000681621.1:c.*225C>T	ENSP00000505770.1:n.*225C>T
ENST00000681680.1:n.2736C>T
ENST00000681720.1:c.*96C>T	ENSP00000505438.1:n.*96C>T
ENST00000681730.1:n.863C>T
ENST00000681790.1:c.383C>T	ENSP00000505130.1:p.Pro128Leu
ENST00000681837.1:n.1257C>T
ENST00000681913.1:n.2765C>T
ENST00000681916.1:c.*409C>T	ENSP00000506477.1:n.*409C>T
ENST00000681930.1:n.2765C>T
ENST00000370834.9:c.740C>T	ENSP00000359871.5:p.Pro247Leu
ENST00000370841.8:c.641C>T	ENSP00000359878.4:p.Pro214Leu
ENST00000420607.6:c.653C>T	ENSP00000409612.2:p.Pro218Leu
ENST00000525808.5:c.*227C>T	ENSP00000434823.1:n.*227C>T
ENST00000526129.5:c.*425C>T	ENSP00000434092.1:n.*425C>T
ENST00000526196.5:c.*409C>T	ENSP00000431953.1:n.*409C>T
ENST00000526930.1:n.414C>T
ENST00000529059.5:n.550C>T
ENST00000530953.6:c.*138C>T	ENSP00000431372.1:n.*138C>T
ENST00000532207.5:n.371C>T
ENST00000532509.5:c.*405C>T	ENSP00000432522.1:n.*405C>T
ENST00000534334.5:c.*225C>T	ENSP00000435584.1:n.*225C>T
ENST00000541113.5:c.533C>T	ENSP00000442324.1:p.Pro178Leu
NM_000016.5:c.641C>T	NP_000007.1:p.Pro214Leu
NM_001127328.2:c.653C>T	NP_001120800.1:p.Pro218Leu
NM_001286042.1:c.533C>T	NP_001272971.1:p.Pro178Leu
NM_001286043.1:c.740C>T	NP_001272972.1:p.Pro247Leu
NM_001286044.1:c.74C>T	NP_001272973.1:p.Pro25Leu
NM_000016.6:c.641C>T MANE Select	NP_000007.1:p.Pro214Leu
NM_001127328.3:c.653C>T	NP_001120800.1:p.Pro218Leu
NM_001286042.2:c.533C>T	NP_001272971.1:p.Pro178Leu
NM_001286043.2:c.740C>T	NP_001272972.1:p.Pro247Leu
NM_001286044.2:c.74C>T	NP_001272973.1:p.Pro25Leu