Canonical Allele Identifier: CA2646249077

Gene: ACADM

Linked Data

• gnomAD v4: 1-75762545-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75762545T>C , CM000663.2:g.75762545T>C	GRCh38
NC_000001.10:g.76228230T>C , CM000663.1:g.76228230T>C	GRCh37
NC_000001.9:g.76000818T>C	NCBI36
NG_007045.2:g.43188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1195-147T>C MANE Select	ENSP00000359878.5:n.1195-147T>C
ENST00000473018.3:n.3319-147T>C
ENST00000532207.6:n.3380T>C
ENST00000541113.6:c.1099-147T>C	ENSP00000442324.2:n.1099-147T>C
ENST00000679509.1:n.3331T>C
ENST00000679530.1:c.*963-147T>C	ENSP00000506454.1:n.*963-147T>C
ENST00000679615.1:n.4384T>C
ENST00000679687.1:c.757-147T>C	ENSP00000506598.1:n.757-147T>C
ENST00000679704.1:c.*961-147T>C	ENSP00000505117.1:n.*961-147T>C
ENST00000679709.1:c.*1158-147T>C	ENSP00000506623.1:n.*1158-147T>C
ENST00000679976.1:c.*779-147T>C	ENSP00000505565.1:n.*779-147T>C
ENST00000680166.1:n.4484-147T>C
ENST00000680315.1:n.2252T>C
ENST00000680517.1:c.*1757T>C	ENSP00000505803.1:n.*1757T>C
ENST00000680582.1:n.2157-147T>C
ENST00000680613.1:c.*688-147T>C	ENSP00000506114.1:n.*688-147T>C
ENST00000680662.1:c.*1109-147T>C	ENSP00000505080.1:n.*1109-147T>C
ENST00000680691.1:c.*858-147T>C	ENSP00000506487.1:n.*858-147T>C
ENST00000680694.1:c.*783-147T>C	ENSP00000505658.1:n.*783-147T>C
ENST00000680743.1:c.*984-147T>C	ENSP00000505073.1:n.*984-147T>C
ENST00000680749.1:c.*480-147T>C	ENSP00000505122.1:n.*480-147T>C
ENST00000680798.1:c.*1844T>C	ENSP00000505670.1:n.*1844T>C
ENST00000680805.1:c.1054-147T>C	ENSP00000505447.1:n.1054-147T>C
ENST00000680844.1:c.*2153T>C	ENSP00000506541.1:n.*2153T>C
ENST00000680948.1:c.*1062-147T>C	ENSP00000505441.1:n.*1062-147T>C
ENST00000680964.1:c.*1462T>C	ENSP00000505961.1:n.*1462T>C
ENST00000681037.1:c.*2679-147T>C	ENSP00000506025.1:n.*2679-147T>C
ENST00000681063.1:c.*464-147T>C	ENSP00000506616.1:n.*464-147T>C
ENST00000681209.1:c.*850-147T>C	ENSP00000505877.1:n.*850-147T>C
ENST00000681278.1:n.1897-147T>C
ENST00000681289.1:n.5190-147T>C
ENST00000681361.1:c.*2036T>C	ENSP00000506679.1:n.*2036T>C
ENST00000681430.1:c.*288-147T>C	ENSP00000506301.1:n.*288-147T>C
ENST00000681446.1:c.*2073T>C	ENSP00000506244.1:n.*2073T>C
ENST00000681450.1:c.*866-147T>C	ENSP00000505660.1:n.*866-147T>C
ENST00000681548.1:c.*1955T>C	ENSP00000505275.1:n.*1955T>C
ENST00000681616.1:c.*2028T>C	ENSP00000505111.1:n.*2028T>C
ENST00000681621.1:c.*1953T>C	ENSP00000505770.1:n.*1953T>C
ENST00000681680.1:n.4464T>C
ENST00000681720.1:c.*650-147T>C	ENSP00000505438.1:n.*650-147T>C
ENST00000681730.1:n.1417-147T>C
ENST00000681790.1:c.937-147T>C	ENSP00000505130.1:n.937-147T>C
ENST00000681837.1:n.2985T>C
ENST00000681913.1:n.3441-147T>C
ENST00000681916.1:c.*963-147T>C	ENSP00000506477.1:n.*963-147T>C
ENST00000681930.1:n.4493T>C
ENST00000370834.9:c.1294-147T>C	ENSP00000359871.5:n.1294-147T>C
ENST00000370841.8:c.1195-147T>C	ENSP00000359878.4:n.1195-147T>C
ENST00000420607.6:c.1207-147T>C	ENSP00000409612.2:n.1207-147T>C
ENST00000481374.1:n.468-748T>C
ENST00000525808.5:c.*781-147T>C	ENSP00000434823.1:n.*781-147T>C
ENST00000526196.5:c.*963-147T>C	ENSP00000431953.1:n.*963-147T>C
ENST00000528016.1:c.160-6632T>C	ENSP00000434284.1:n.160-6632T>C
ENST00000529059.5:n.1104-147T>C
ENST00000541113.5:c.1087-147T>C	ENSP00000442324.1:n.1087-147T>C
NM_000016.5:c.1195-147T>C	NP_000007.1:n.1195-147T>C
NM_001127328.2:c.1207-147T>C	NP_001120800.1:n.1207-147T>C
NM_001286042.1:c.1087-147T>C	NP_001272971.1:n.1087-147T>C
NM_001286043.1:c.1294-147T>C	NP_001272972.1:n.1294-147T>C
NM_001286044.1:c.628-147T>C	NP_001272973.1:n.628-147T>C
NM_000016.6:c.1195-147T>C MANE Select	NP_000007.1:n.1195-147T>C
NM_001127328.3:c.1207-147T>C	NP_001120800.1:n.1207-147T>C
NM_001286042.2:c.1087-147T>C	NP_001272971.1:n.1087-147T>C
NM_001286043.2:c.1294-147T>C	NP_001272972.1:n.1294-147T>C
NM_001286044.2:c.628-147T>C	NP_001272973.1:n.628-147T>C