Canonical Allele Identifier: CA418545036
Gene: ACADM HGNC NCBI

Linked Data

dbSNP Id: rs17097429
gnomAD v3: 1-75750501-C-A
gnomAD v4: 1-75750501-C-A
MyVariant Identifiers: chr1:g.76216186C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750501C>A , CM000663.2:g.75750501C>A GRCh38
NC_000001.10:g.76216186C>A , CM000663.1:g.76216186C>A GRCh37
NC_000001.9:g.75988774C>A NCBI36
NG_007045.2:g.31144C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.900C>A MANE Select ENSP00000359878.5:p.Thr300=
ENST00000473018.3:n.3024C>A
ENST00000532207.6:n.1789C>A
ENST00000541113.6:c.849+942C>A ENSP00000442324.2:n.849+942C>A
ENST00000679509.1:n.1862C>A
ENST00000679530.1:c.*668C>A ENSP00000506454.1:n.*668C>A
ENST00000679615.1:n.2915C>A
ENST00000679687.1:c.462C>A ENSP00000506598.1:p.Thr154=
ENST00000679704.1:c.*666C>A ENSP00000505117.1:n.*666C>A
ENST00000679709.1:c.*863C>A ENSP00000506623.1:n.*863C>A
ENST00000679976.1:c.*484C>A ENSP00000505565.1:n.*484C>A
ENST00000680166.1:n.4189C>A
ENST00000680315.1:n.783C>A
ENST00000680517.1:c.*288C>A ENSP00000505803.1:n.*288C>A
ENST00000680582.1:n.1862C>A
ENST00000680613.1:c.*271C>A ENSP00000506114.1:n.*271C>A
ENST00000680662.1:c.*814C>A ENSP00000505080.1:n.*814C>A
ENST00000680691.1:c.*563C>A ENSP00000506487.1:n.*563C>A
ENST00000680694.1:c.*488C>A ENSP00000505658.1:n.*488C>A
ENST00000680743.1:c.*567C>A ENSP00000505073.1:n.*567C>A
ENST00000680749.1:c.*185C>A ENSP00000505122.1:n.*185C>A
ENST00000680798.1:c.*375C>A ENSP00000505670.1:n.*375C>A
ENST00000680805.1:c.759C>A ENSP00000505447.1:p.Thr253=
ENST00000680844.1:c.*684C>A ENSP00000506541.1:n.*684C>A
ENST00000680948.1:c.*767C>A ENSP00000505441.1:n.*767C>A
ENST00000680964.1:c.900C>A ENSP00000505961.1:p.Thr300=
ENST00000681037.1:c.*2384C>A ENSP00000506025.1:n.*2384C>A
ENST00000681063.1:c.*47C>A ENSP00000506616.1:n.*47C>A
ENST00000681209.1:c.*555C>A ENSP00000505877.1:n.*555C>A
ENST00000681278.1:n.1257C>A
ENST00000681289.1:n.4895C>A
ENST00000681361.1:c.*567C>A ENSP00000506679.1:n.*567C>A
ENST00000681430.1:c.900C>A ENSP00000506301.1:p.Thr300=
ENST00000681446.1:c.*482C>A ENSP00000506244.1:n.*482C>A
ENST00000681450.1:c.*571C>A ENSP00000505660.1:n.*571C>A
ENST00000681548.1:c.*486C>A ENSP00000505275.1:n.*486C>A
ENST00000681616.1:c.*559C>A ENSP00000505111.1:n.*559C>A
ENST00000681621.1:c.*484C>A ENSP00000505770.1:n.*484C>A
ENST00000681680.1:n.2995C>A
ENST00000681720.1:c.*355C>A ENSP00000505438.1:n.*355C>A
ENST00000681730.1:n.1122C>A
ENST00000681790.1:c.642C>A ENSP00000505130.1:p.Thr214=
ENST00000681837.1:n.1516C>A
ENST00000681913.1:n.3024C>A
ENST00000681916.1:c.*668C>A ENSP00000506477.1:n.*668C>A
ENST00000681930.1:n.3024C>A
ENST00000370834.9:c.999C>A ENSP00000359871.5:p.Thr333=
ENST00000370841.8:c.900C>A ENSP00000359878.4:p.Thr300=
ENST00000420607.6:c.912C>A ENSP00000409612.2:p.Thr304=
ENST00000481374.1:n.51C>A
ENST00000525808.5:c.*486C>A ENSP00000434823.1:n.*486C>A
ENST00000526129.5:c.*684C>A ENSP00000434092.1:n.*684C>A
ENST00000526196.5:c.*668C>A ENSP00000431953.1:n.*668C>A
ENST00000528016.1:c.114C>A ENSP00000434284.1:p.Thr38=
ENST00000529059.5:n.809C>A
ENST00000532207.5:n.630C>A
ENST00000534334.5:c.*484C>A ENSP00000435584.1:n.*484C>A
ENST00000541113.5:c.792C>A ENSP00000442324.1:p.Thr264=
NM_000016.5:c.900C>A NP_000007.1:p.Thr300=
NM_001127328.2:c.912C>A NP_001120800.1:p.Thr304=
NM_001286042.1:c.792C>A NP_001272971.1:p.Thr264=
NM_001286043.1:c.999C>A NP_001272972.1:p.Thr333=
NM_001286044.1:c.333C>A NP_001272973.1:p.Thr111=
NM_000016.6:c.900C>A MANE Select NP_000007.1:p.Thr300=
NM_001127328.3:c.912C>A NP_001120800.1:p.Thr304=
NM_001286042.2:c.792C>A NP_001272971.1:p.Thr264=
NM_001286043.2:c.999C>A NP_001272972.1:p.Thr333=
NM_001286044.2:c.333C>A NP_001272973.1:p.Thr111=