Canonical Allele Identifier: CA418544868

Gene: ACADM

Linked Data

• gnomAD v4: 1-75749497-T-C
• MyVariant Identifiers: chr1:g.76215182T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749497T>C , CM000663.2:g.75749497T>C	GRCh38
NC_000001.10:g.76215182T>C , CM000663.1:g.76215182T>C	GRCh37
NC_000001.9:g.75987770T>C	NCBI36
NG_007045.2:g.30140T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.787T>C MANE Select	ENSP00000359878.5:p.Leu263=
ENST00000473018.3:n.2911T>C
ENST00000532207.6:n.1676T>C
ENST00000541113.6:c.787T>C	ENSP00000442324.2:p.Leu263=
ENST00000679509.1:n.1749T>C
ENST00000679530.1:c.*555T>C	ENSP00000506454.1:n.*555T>C
ENST00000679615.1:n.2802T>C
ENST00000679687.1:c.349T>C	ENSP00000506598.1:p.Leu117=
ENST00000679704.1:c.*553T>C	ENSP00000505117.1:n.*553T>C
ENST00000679709.1:c.*750T>C	ENSP00000506623.1:n.*750T>C
ENST00000679976.1:c.*371T>C	ENSP00000505565.1:n.*371T>C
ENST00000680166.1:n.4076T>C
ENST00000680517.1:c.*175T>C	ENSP00000505803.1:n.*175T>C
ENST00000680582.1:n.1749T>C
ENST00000680613.1:c.*158T>C	ENSP00000506114.1:n.*158T>C
ENST00000680662.1:c.*701T>C	ENSP00000505080.1:n.*701T>C
ENST00000680691.1:c.*450T>C	ENSP00000506487.1:n.*450T>C
ENST00000680694.1:c.*375T>C	ENSP00000505658.1:n.*375T>C
ENST00000680743.1:c.*454T>C	ENSP00000505073.1:n.*454T>C
ENST00000680749.1:c.*72T>C	ENSP00000505122.1:n.*72T>C
ENST00000680798.1:c.*262T>C	ENSP00000505670.1:n.*262T>C
ENST00000680805.1:c.709-954T>C	ENSP00000505447.1:n.709-954T>C
ENST00000680844.1:c.*571T>C	ENSP00000506541.1:n.*571T>C
ENST00000680948.1:c.*654T>C	ENSP00000505441.1:n.*654T>C
ENST00000680964.1:c.787T>C	ENSP00000505961.1:p.Leu263=
ENST00000681037.1:c.*2271T>C	ENSP00000506025.1:n.*2271T>C
ENST00000681063.1:c.600-954T>C	ENSP00000506616.1:n.600-954T>C
ENST00000681209.1:c.*442T>C	ENSP00000505877.1:n.*442T>C
ENST00000681278.1:n.1144T>C
ENST00000681289.1:n.4782T>C
ENST00000681361.1:c.*454T>C	ENSP00000506679.1:n.*454T>C
ENST00000681430.1:c.787T>C	ENSP00000506301.1:p.Leu263=
ENST00000681446.1:c.*369T>C	ENSP00000506244.1:n.*369T>C
ENST00000681450.1:c.*458T>C	ENSP00000505660.1:n.*458T>C
ENST00000681548.1:c.*373T>C	ENSP00000505275.1:n.*373T>C
ENST00000681616.1:c.*446T>C	ENSP00000505111.1:n.*446T>C
ENST00000681621.1:c.*371T>C	ENSP00000505770.1:n.*371T>C
ENST00000681680.1:n.2882T>C
ENST00000681720.1:c.*242T>C	ENSP00000505438.1:n.*242T>C
ENST00000681730.1:n.1009T>C
ENST00000681790.1:c.529T>C	ENSP00000505130.1:p.Leu177=
ENST00000681837.1:n.1403T>C
ENST00000681913.1:n.2911T>C
ENST00000681916.1:c.*555T>C	ENSP00000506477.1:n.*555T>C
ENST00000681930.1:n.2911T>C
ENST00000370834.9:c.886T>C	ENSP00000359871.5:p.Leu296=
ENST00000370841.8:c.787T>C	ENSP00000359878.4:p.Leu263=
ENST00000420607.6:c.799T>C	ENSP00000409612.2:p.Leu267=
ENST00000525808.5:c.*373T>C	ENSP00000434823.1:n.*373T>C
ENST00000526129.5:c.*571T>C	ENSP00000434092.1:n.*571T>C
ENST00000526196.5:c.*555T>C	ENSP00000431953.1:n.*555T>C
ENST00000526930.1:n.560T>C
ENST00000528016.1:c.1T>C	ENSP00000434284.1:p.Leu1=
ENST00000529059.5:n.696T>C
ENST00000530953.6:c.*284T>C	ENSP00000431372.1:n.*284T>C
ENST00000532207.5:n.517T>C
ENST00000532509.5:c.*551T>C	ENSP00000432522.1:n.*551T>C
ENST00000534334.5:c.*371T>C	ENSP00000435584.1:n.*371T>C
ENST00000541113.5:c.679T>C	ENSP00000442324.1:p.Leu227=
NM_000016.5:c.787T>C	NP_000007.1:p.Leu263=
NM_001127328.2:c.799T>C	NP_001120800.1:p.Leu267=
NM_001286042.1:c.679T>C	NP_001272971.1:p.Leu227=
NM_001286043.1:c.886T>C	NP_001272972.1:p.Leu296=
NM_001286044.1:c.220T>C	NP_001272973.1:p.Leu74=
NM_000016.6:c.787T>C MANE Select	NP_000007.1:p.Leu263=
NM_001127328.3:c.799T>C	NP_001120800.1:p.Leu267=
NM_001286042.2:c.679T>C	NP_001272971.1:p.Leu227=
NM_001286043.2:c.886T>C	NP_001272972.1:p.Leu296=
NM_001286044.2:c.220T>C	NP_001272973.1:p.Leu74=