Canonical Allele Identifier: CA2646249080

Gene: ACADM

Linked Data

• gnomAD v4: 1-75762548-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75762548G>T , CM000663.2:g.75762548G>T	GRCh38
NC_000001.10:g.76228233G>T , CM000663.1:g.76228233G>T	GRCh37
NC_000001.9:g.76000821G>T	NCBI36
NG_007045.2:g.43191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1195-144G>T MANE Select	ENSP00000359878.5:n.1195-144G>T
ENST00000473018.3:n.3319-144G>T
ENST00000532207.6:n.3383G>T
ENST00000541113.6:c.1099-144G>T	ENSP00000442324.2:n.1099-144G>T
ENST00000679509.1:n.3334G>T
ENST00000679530.1:c.*963-144G>T	ENSP00000506454.1:n.*963-144G>T
ENST00000679615.1:n.4387G>T
ENST00000679687.1:c.757-144G>T	ENSP00000506598.1:n.757-144G>T
ENST00000679704.1:c.*961-144G>T	ENSP00000505117.1:n.*961-144G>T
ENST00000679709.1:c.*1158-144G>T	ENSP00000506623.1:n.*1158-144G>T
ENST00000679976.1:c.*779-144G>T	ENSP00000505565.1:n.*779-144G>T
ENST00000680166.1:n.4484-144G>T
ENST00000680315.1:n.2255G>T
ENST00000680517.1:c.*1760G>T	ENSP00000505803.1:n.*1760G>T
ENST00000680582.1:n.2157-144G>T
ENST00000680613.1:c.*688-144G>T	ENSP00000506114.1:n.*688-144G>T
ENST00000680662.1:c.*1109-144G>T	ENSP00000505080.1:n.*1109-144G>T
ENST00000680691.1:c.*858-144G>T	ENSP00000506487.1:n.*858-144G>T
ENST00000680694.1:c.*783-144G>T	ENSP00000505658.1:n.*783-144G>T
ENST00000680743.1:c.*984-144G>T	ENSP00000505073.1:n.*984-144G>T
ENST00000680749.1:c.*480-144G>T	ENSP00000505122.1:n.*480-144G>T
ENST00000680798.1:c.*1847G>T	ENSP00000505670.1:n.*1847G>T
ENST00000680805.1:c.1054-144G>T	ENSP00000505447.1:n.1054-144G>T
ENST00000680844.1:c.*2156G>T	ENSP00000506541.1:n.*2156G>T
ENST00000680948.1:c.*1062-144G>T	ENSP00000505441.1:n.*1062-144G>T
ENST00000680964.1:c.*1465G>T	ENSP00000505961.1:n.*1465G>T
ENST00000681037.1:c.*2679-144G>T	ENSP00000506025.1:n.*2679-144G>T
ENST00000681063.1:c.*464-144G>T	ENSP00000506616.1:n.*464-144G>T
ENST00000681209.1:c.*850-144G>T	ENSP00000505877.1:n.*850-144G>T
ENST00000681278.1:n.1897-144G>T
ENST00000681289.1:n.5190-144G>T
ENST00000681361.1:c.*2039G>T	ENSP00000506679.1:n.*2039G>T
ENST00000681430.1:c.*288-144G>T	ENSP00000506301.1:n.*288-144G>T
ENST00000681446.1:c.*2076G>T	ENSP00000506244.1:n.*2076G>T
ENST00000681450.1:c.*866-144G>T	ENSP00000505660.1:n.*866-144G>T
ENST00000681548.1:c.*1958G>T	ENSP00000505275.1:n.*1958G>T
ENST00000681616.1:c.*2031G>T	ENSP00000505111.1:n.*2031G>T
ENST00000681621.1:c.*1956G>T	ENSP00000505770.1:n.*1956G>T
ENST00000681680.1:n.4467G>T
ENST00000681720.1:c.*650-144G>T	ENSP00000505438.1:n.*650-144G>T
ENST00000681730.1:n.1417-144G>T
ENST00000681790.1:c.937-144G>T	ENSP00000505130.1:n.937-144G>T
ENST00000681837.1:n.2988G>T
ENST00000681913.1:n.3441-144G>T
ENST00000681916.1:c.*963-144G>T	ENSP00000506477.1:n.*963-144G>T
ENST00000681930.1:n.4496G>T
ENST00000370834.9:c.1294-144G>T	ENSP00000359871.5:n.1294-144G>T
ENST00000370841.8:c.1195-144G>T	ENSP00000359878.4:n.1195-144G>T
ENST00000420607.6:c.1207-144G>T	ENSP00000409612.2:n.1207-144G>T
ENST00000481374.1:n.468-745G>T
ENST00000525808.5:c.*781-144G>T	ENSP00000434823.1:n.*781-144G>T
ENST00000526196.5:c.*963-144G>T	ENSP00000431953.1:n.*963-144G>T
ENST00000528016.1:c.160-6629G>T	ENSP00000434284.1:n.160-6629G>T
ENST00000529059.5:n.1104-144G>T
ENST00000541113.5:c.1087-144G>T	ENSP00000442324.1:n.1087-144G>T
NM_000016.5:c.1195-144G>T	NP_000007.1:n.1195-144G>T
NM_001127328.2:c.1207-144G>T	NP_001120800.1:n.1207-144G>T
NM_001286042.1:c.1087-144G>T	NP_001272971.1:n.1087-144G>T
NM_001286043.1:c.1294-144G>T	NP_001272972.1:n.1294-144G>T
NM_001286044.1:c.628-144G>T	NP_001272973.1:n.628-144G>T
NM_000016.6:c.1195-144G>T MANE Select	NP_000007.1:n.1195-144G>T
NM_001127328.3:c.1207-144G>T	NP_001120800.1:n.1207-144G>T
NM_001286042.2:c.1087-144G>T	NP_001272971.1:n.1087-144G>T
NM_001286043.2:c.1294-144G>T	NP_001272972.1:n.1294-144G>T
NM_001286044.2:c.628-144G>T	NP_001272973.1:n.628-144G>T