Canonical Allele Identifier: CA340818127

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76226941T>G (hg19) ; chr1:g.75761256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761256T>G , CM000663.2:g.75761256T>G	GRCh38
NC_000001.10:g.76226941T>G , CM000663.1:g.76226941T>G	GRCh37
NC_000001.9:g.75999529T>G	NCBI36
NG_007045.2:g.41899T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1080T>G MANE Select	ENSP00000359878.5:p.Phe360Leu
ENST00000473018.3:n.3204T>G
ENST00000532207.6:n.2091T>G
ENST00000541113.6:c.984T>G	ENSP00000442324.2:p.Phe328Leu
ENST00000679509.1:n.2042T>G
ENST00000679530.1:c.*848T>G	ENSP00000506454.1:n.*848T>G
ENST00000679615.1:n.3095T>G
ENST00000679687.1:c.642T>G	ENSP00000506598.1:p.Phe214Leu
ENST00000679704.1:c.*846T>G	ENSP00000505117.1:n.*846T>G
ENST00000679709.1:c.*1043T>G	ENSP00000506623.1:n.*1043T>G
ENST00000679976.1:c.*664T>G	ENSP00000505565.1:n.*664T>G
ENST00000680166.1:n.4369T>G
ENST00000680315.1:n.963T>G
ENST00000680517.1:c.*468T>G	ENSP00000505803.1:n.*468T>G
ENST00000680582.1:n.2042T>G
ENST00000680613.1:c.*573T>G	ENSP00000506114.1:n.*573T>G
ENST00000680662.1:c.*994T>G	ENSP00000505080.1:n.*994T>G
ENST00000680691.1:c.*743T>G	ENSP00000506487.1:n.*743T>G
ENST00000680694.1:c.*668T>G	ENSP00000505658.1:n.*668T>G
ENST00000680743.1:c.*869T>G	ENSP00000505073.1:n.*869T>G
ENST00000680749.1:c.*365T>G	ENSP00000505122.1:n.*365T>G
ENST00000680798.1:c.*555T>G	ENSP00000505670.1:n.*555T>G
ENST00000680805.1:c.939T>G	ENSP00000505447.1:p.Phe313Leu
ENST00000680844.1:c.*864T>G	ENSP00000506541.1:n.*864T>G
ENST00000680948.1:c.*947T>G	ENSP00000505441.1:n.*947T>G
ENST00000680964.1:c.*173T>G	ENSP00000505961.1:n.*173T>G
ENST00000681037.1:c.*2564T>G	ENSP00000506025.1:n.*2564T>G
ENST00000681063.1:c.*349T>G	ENSP00000506616.1:n.*349T>G
ENST00000681209.1:c.*735T>G	ENSP00000505877.1:n.*735T>G
ENST00000681278.1:n.1782T>G
ENST00000681289.1:n.5075T>G
ENST00000681361.1:c.*747T>G	ENSP00000506679.1:n.*747T>G
ENST00000681430.1:c.*173T>G	ENSP00000506301.1:n.*173T>G
ENST00000681446.1:c.*784T>G	ENSP00000506244.1:n.*784T>G
ENST00000681450.1:c.*751T>G	ENSP00000505660.1:n.*751T>G
ENST00000681548.1:c.*666T>G	ENSP00000505275.1:n.*666T>G
ENST00000681616.1:c.*739T>G	ENSP00000505111.1:n.*739T>G
ENST00000681621.1:c.*664T>G	ENSP00000505770.1:n.*664T>G
ENST00000681680.1:n.3175T>G
ENST00000681720.1:c.*535T>G	ENSP00000505438.1:n.*535T>G
ENST00000681730.1:n.1302T>G
ENST00000681790.1:c.822T>G	ENSP00000505130.1:p.Phe274Leu
ENST00000681837.1:n.1696T>G
ENST00000681913.1:n.3326T>G
ENST00000681916.1:c.*848T>G	ENSP00000506477.1:n.*848T>G
ENST00000681930.1:n.3204T>G
ENST00000370834.9:c.1179T>G	ENSP00000359871.5:p.Phe393Leu
ENST00000370841.8:c.1080T>G	ENSP00000359878.4:p.Phe360Leu
ENST00000420607.6:c.1092T>G	ENSP00000409612.2:p.Phe364Leu
ENST00000481374.1:n.353T>G
ENST00000525808.5:c.*666T>G	ENSP00000434823.1:n.*666T>G
ENST00000526129.5:c.*864T>G	ENSP00000434092.1:n.*864T>G
ENST00000526196.5:c.*848T>G	ENSP00000431953.1:n.*848T>G
ENST00000528016.1:c.160-7921T>G	ENSP00000434284.1:n.160-7921T>G
ENST00000529059.5:n.989T>G
ENST00000541113.5:c.972T>G	ENSP00000442324.1:p.Phe324Leu
NM_000016.5:c.1080T>G	NP_000007.1:p.Phe360Leu
NM_001127328.2:c.1092T>G	NP_001120800.1:p.Phe364Leu
NM_001286042.1:c.972T>G	NP_001272971.1:p.Phe324Leu
NM_001286043.1:c.1179T>G	NP_001272972.1:p.Phe393Leu
NM_001286044.1:c.513T>G	NP_001272973.1:p.Phe171Leu
NM_000016.6:c.1080T>G MANE Select	NP_000007.1:p.Phe360Leu
NM_001127328.3:c.1092T>G	NP_001120800.1:p.Phe364Leu
NM_001286042.2:c.972T>G	NP_001272971.1:p.Phe324Leu
NM_001286043.2:c.1179T>G	NP_001272972.1:p.Phe393Leu
NM_001286044.2:c.513T>G	NP_001272973.1:p.Phe171Leu