Canonical Allele Identifier: CA2646249082

Gene: ACADM

Linked Data

• gnomAD v4: 1-75762551-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75762551T>C , CM000663.2:g.75762551T>C	GRCh38
NC_000001.10:g.76228236T>C , CM000663.1:g.76228236T>C	GRCh37
NC_000001.9:g.76000824T>C	NCBI36
NG_007045.2:g.43194T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1195-141T>C MANE Select	ENSP00000359878.5:n.1195-141T>C
ENST00000473018.3:n.3319-141T>C
ENST00000532207.6:n.3386T>C
ENST00000541113.6:c.1099-141T>C	ENSP00000442324.2:n.1099-141T>C
ENST00000679509.1:n.3337T>C
ENST00000679530.1:c.*963-141T>C	ENSP00000506454.1:n.*963-141T>C
ENST00000679615.1:n.4390T>C
ENST00000679687.1:c.757-141T>C	ENSP00000506598.1:n.757-141T>C
ENST00000679704.1:c.*961-141T>C	ENSP00000505117.1:n.*961-141T>C
ENST00000679709.1:c.*1158-141T>C	ENSP00000506623.1:n.*1158-141T>C
ENST00000679976.1:c.*779-141T>C	ENSP00000505565.1:n.*779-141T>C
ENST00000680166.1:n.4484-141T>C
ENST00000680315.1:n.2258T>C
ENST00000680517.1:c.*1763T>C	ENSP00000505803.1:n.*1763T>C
ENST00000680582.1:n.2157-141T>C
ENST00000680613.1:c.*688-141T>C	ENSP00000506114.1:n.*688-141T>C
ENST00000680662.1:c.*1109-141T>C	ENSP00000505080.1:n.*1109-141T>C
ENST00000680691.1:c.*858-141T>C	ENSP00000506487.1:n.*858-141T>C
ENST00000680694.1:c.*783-141T>C	ENSP00000505658.1:n.*783-141T>C
ENST00000680743.1:c.*984-141T>C	ENSP00000505073.1:n.*984-141T>C
ENST00000680749.1:c.*480-141T>C	ENSP00000505122.1:n.*480-141T>C
ENST00000680798.1:c.*1850T>C	ENSP00000505670.1:n.*1850T>C
ENST00000680805.1:c.1054-141T>C	ENSP00000505447.1:n.1054-141T>C
ENST00000680844.1:c.*2159T>C	ENSP00000506541.1:n.*2159T>C
ENST00000680948.1:c.*1062-141T>C	ENSP00000505441.1:n.*1062-141T>C
ENST00000680964.1:c.*1468T>C	ENSP00000505961.1:n.*1468T>C
ENST00000681037.1:c.*2679-141T>C	ENSP00000506025.1:n.*2679-141T>C
ENST00000681063.1:c.*464-141T>C	ENSP00000506616.1:n.*464-141T>C
ENST00000681209.1:c.*850-141T>C	ENSP00000505877.1:n.*850-141T>C
ENST00000681278.1:n.1897-141T>C
ENST00000681289.1:n.5190-141T>C
ENST00000681361.1:c.*2042T>C	ENSP00000506679.1:n.*2042T>C
ENST00000681430.1:c.*288-141T>C	ENSP00000506301.1:n.*288-141T>C
ENST00000681446.1:c.*2079T>C	ENSP00000506244.1:n.*2079T>C
ENST00000681450.1:c.*866-141T>C	ENSP00000505660.1:n.*866-141T>C
ENST00000681548.1:c.*1961T>C	ENSP00000505275.1:n.*1961T>C
ENST00000681616.1:c.*2034T>C	ENSP00000505111.1:n.*2034T>C
ENST00000681621.1:c.*1959T>C	ENSP00000505770.1:n.*1959T>C
ENST00000681680.1:n.4470T>C
ENST00000681720.1:c.*650-141T>C	ENSP00000505438.1:n.*650-141T>C
ENST00000681730.1:n.1417-141T>C
ENST00000681790.1:c.937-141T>C	ENSP00000505130.1:n.937-141T>C
ENST00000681837.1:n.2991T>C
ENST00000681913.1:n.3441-141T>C
ENST00000681916.1:c.*963-141T>C	ENSP00000506477.1:n.*963-141T>C
ENST00000681930.1:n.4499T>C
ENST00000370834.9:c.1294-141T>C	ENSP00000359871.5:n.1294-141T>C
ENST00000370841.8:c.1195-141T>C	ENSP00000359878.4:n.1195-141T>C
ENST00000420607.6:c.1207-141T>C	ENSP00000409612.2:n.1207-141T>C
ENST00000481374.1:n.468-742T>C
ENST00000525808.5:c.*781-141T>C	ENSP00000434823.1:n.*781-141T>C
ENST00000526196.5:c.*963-141T>C	ENSP00000431953.1:n.*963-141T>C
ENST00000528016.1:c.160-6626T>C	ENSP00000434284.1:n.160-6626T>C
ENST00000529059.5:n.1104-141T>C
ENST00000541113.5:c.1087-141T>C	ENSP00000442324.1:n.1087-141T>C
NM_000016.5:c.1195-141T>C	NP_000007.1:n.1195-141T>C
NM_001127328.2:c.1207-141T>C	NP_001120800.1:n.1207-141T>C
NM_001286042.1:c.1087-141T>C	NP_001272971.1:n.1087-141T>C
NM_001286043.1:c.1294-141T>C	NP_001272972.1:n.1294-141T>C
NM_001286044.1:c.628-141T>C	NP_001272973.1:n.628-141T>C
NM_000016.6:c.1195-141T>C MANE Select	NP_000007.1:n.1195-141T>C
NM_001127328.3:c.1207-141T>C	NP_001120800.1:n.1207-141T>C
NM_001286042.2:c.1087-141T>C	NP_001272971.1:n.1087-141T>C
NM_001286043.2:c.1294-141T>C	NP_001272972.1:n.1294-141T>C
NM_001286044.2:c.628-141T>C	NP_001272973.1:n.628-141T>C