Canonical Allele Identifier: CA340815292

Gene: ACADM

Linked Data

• gnomAD v4: 1-75740062-T-C
• MyVariant Identifiers: chr1:g.76205747T>C (hg19) ; chr1:g.75740062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740062T>C , CM000663.2:g.75740062T>C	GRCh38
NC_000001.10:g.76205747T>C , CM000663.1:g.76205747T>C	GRCh37
NC_000001.9:g.75978335T>C	NCBI36
NG_007045.2:g.20705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.551T>C MANE Select	ENSP00000359878.5:p.Ile184Thr
ENST00000473018.3:n.2675T>C
ENST00000541113.6:c.551T>C	ENSP00000442324.2:p.Ile184Thr
ENST00000679509.1:n.1513T>C
ENST00000679530.1:c.*319T>C	ENSP00000506454.1:n.*319T>C
ENST00000679615.1:n.2675T>C
ENST00000679687.1:c.113T>C	ENSP00000506598.1:p.Ile38Thr
ENST00000679704.1:c.*317T>C	ENSP00000505117.1:n.*317T>C
ENST00000679709.1:c.*514T>C	ENSP00000506623.1:n.*514T>C
ENST00000679804.1:n.290T>C
ENST00000679976.1:c.*135T>C	ENSP00000505565.1:n.*135T>C
ENST00000680166.1:n.3840T>C
ENST00000680517.1:c.*48T>C	ENSP00000505803.1:n.*48T>C
ENST00000680582.1:n.1513T>C
ENST00000680613.1:c.551T>C	ENSP00000506114.1:p.Ile184Thr
ENST00000680662.1:c.*465T>C	ENSP00000505080.1:n.*465T>C
ENST00000680691.1:c.*214T>C	ENSP00000506487.1:n.*214T>C
ENST00000680694.1:c.*139T>C	ENSP00000505658.1:n.*139T>C
ENST00000680743.1:c.*218T>C	ENSP00000505073.1:n.*218T>C
ENST00000680749.1:c.551T>C	ENSP00000505122.1:p.Ile184Thr
ENST00000680798.1:c.*135T>C	ENSP00000505670.1:n.*135T>C
ENST00000680805.1:c.551T>C	ENSP00000505447.1:p.Ile184Thr
ENST00000680844.1:c.*335T>C	ENSP00000506541.1:n.*335T>C
ENST00000680948.1:c.*418T>C	ENSP00000505441.1:n.*418T>C
ENST00000680964.1:c.551T>C	ENSP00000505961.1:p.Ile184Thr
ENST00000681037.1:c.551T>C	ENSP00000506025.1:p.Ile184Thr
ENST00000681063.1:c.551T>C	ENSP00000506616.1:p.Ile184Thr
ENST00000681209.1:c.*315T>C	ENSP00000505877.1:n.*315T>C
ENST00000681278.1:n.908T>C
ENST00000681289.1:n.908T>C
ENST00000681361.1:c.*218T>C	ENSP00000506679.1:n.*218T>C
ENST00000681430.1:c.551T>C	ENSP00000506301.1:p.Ile184Thr
ENST00000681446.1:c.*133T>C	ENSP00000506244.1:n.*133T>C
ENST00000681450.1:c.*222T>C	ENSP00000505660.1:n.*222T>C
ENST00000681548.1:c.*137T>C	ENSP00000505275.1:n.*137T>C
ENST00000681616.1:c.*319T>C	ENSP00000505111.1:n.*319T>C
ENST00000681621.1:c.*135T>C	ENSP00000505770.1:n.*135T>C
ENST00000681680.1:n.2675T>C
ENST00000681720.1:c.*55-5744T>C	ENSP00000505438.1:n.*55-5744T>C
ENST00000681730.1:n.773T>C
ENST00000681790.1:c.293T>C	ENSP00000505130.1:p.Ile98Thr
ENST00000681837.1:n.1167T>C
ENST00000681913.1:n.2675T>C
ENST00000681916.1:c.*319T>C	ENSP00000506477.1:n.*319T>C
ENST00000681930.1:n.2675T>C
ENST00000370834.9:c.650T>C	ENSP00000359871.5:p.Ile217Thr
ENST00000370841.8:c.551T>C	ENSP00000359878.4:p.Ile184Thr
ENST00000420607.6:c.563T>C	ENSP00000409612.2:p.Ile188Thr
ENST00000525808.5:c.*137T>C	ENSP00000434823.1:n.*137T>C
ENST00000526129.5:c.*335T>C	ENSP00000434092.1:n.*335T>C
ENST00000526196.5:c.*319T>C	ENSP00000431953.1:n.*319T>C
ENST00000526930.1:n.324T>C
ENST00000529059.5:n.460T>C
ENST00000530953.6:c.*48T>C	ENSP00000431372.1:n.*48T>C
ENST00000532509.5:c.*315T>C	ENSP00000432522.1:n.*315T>C
ENST00000534334.5:c.*135T>C	ENSP00000435584.1:n.*135T>C
ENST00000541113.5:c.443T>C	ENSP00000442324.1:p.Ile148Thr
NM_000016.5:c.551T>C	NP_000007.1:p.Ile184Thr
NM_001127328.2:c.563T>C	NP_001120800.1:p.Ile188Thr
NM_001286042.1:c.443T>C	NP_001272971.1:p.Ile148Thr
NM_001286043.1:c.650T>C	NP_001272972.1:p.Ile217Thr
NM_001286044.1:c.-17T>C	NP_001272973.1:n.-17T>C
NM_000016.6:c.551T>C MANE Select	NP_000007.1:p.Ile184Thr
NM_001127328.3:c.563T>C	NP_001120800.1:p.Ile188Thr
NM_001286042.2:c.443T>C	NP_001272971.1:p.Ile148Thr
NM_001286043.2:c.650T>C	NP_001272972.1:p.Ile217Thr
NM_001286044.2:c.-17T>C	NP_001272973.1:n.-17T>C