Canonical Allele Identifier: CA8338035
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs754994326
ExAC: 17:7126975 A / C
gnomAD v2: 17-7126975-A-C
gnomAD v4: 17-7223656-A-C
MyVariant Identifiers: chr17:g.7126975A>C (hg19) chr17:g.7223656A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223656A>C , CM000679.2:g.7223656A>C GRCh38
NC_000017.10:g.7126975A>C , CM000679.1:g.7126975A>C GRCh37
NC_000017.9:g.7067699A>C NCBI36
NG_007975.1:g.8823A>C
NG_008391.2:g.1395T>G
NG_033038.1:g.15889T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1195A>C MANE Select ENSP00000349297.5:p.Met399Leu
ENST00000322910.9:c.*1150A>C ENSP00000325395.5:n.*1150A>C
ENST00000350303.9:c.1129A>C ENSP00000344152.5:p.Met377Leu
ENST00000356839.9:c.1195A>C ENSP00000349297.5:p.Met399Leu
ENST00000542255.6:c.53A>C
ENST00000543245.6:c.1264A>C ENSP00000438689.2:p.Met422Leu
ENST00000578579.2:n.366A>C
ENST00000578711.1:n.152A>C
ENST00000578824.5:n.611A>C
ENST00000579425.5:n.219A>C
ENST00000579546.1:c.32A>C
ENST00000583858.5:c.224A>C
ENST00000585203.6:n.403A>C
NM_000018.3:c.1195A>C NP_000009.1:p.Met399Leu
NM_001033859.2:c.1129A>C NP_001029031.1:p.Met377Leu
NM_001270447.1:c.1264A>C NP_001257376.1:p.Met422Leu
NM_001270448.1:c.967A>C NP_001257377.1:p.Met323Leu
XM_006721516.2:c.1195A>C XP_006721579.2:p.Met399Leu
XM_011523829.1:c.1195A>C XP_011522131.1:p.Met399Leu
XM_011523830.1:c.1195A>C XP_011522132.1:p.Met399Leu
XR_934021.1:n.1302A>C
XR_934022.1:n.1302A>C
XR_934023.1:n.1302A>C
XM_006721516.3:c.1195A>C XP_006721579.2:p.Met399Leu
XM_011523829.2:c.1195A>C XP_011522131.1:p.Met399Leu
XM_011523830.2:c.1195A>C XP_011522132.1:p.Met399Leu
XM_024450741.1:c.1195A>C XP_024306509.1:p.Met399Leu
XR_934021.2:n.1254A>C
XR_934022.2:n.1254A>C
XR_934023.2:n.1254A>C
NM_000018.4:c.1195A>C MANE Select NP_000009.1:p.Met399Leu
NM_001033859.3:c.1129A>C NP_001029031.1:p.Met377Leu
NM_001270447.2:c.1264A>C NP_001257376.1:p.Met422Leu
NM_001270448.2:c.967A>C NP_001257377.1:p.Met323Leu
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