Canonical Allele Identifier: CA624860670
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1296118844
gnomAD v2: 17-7125080-A-G
gnomAD v3: 17-7221761-A-G
gnomAD v4: 17-7221761-A-G
MyVariant Identifiers: chr17:g.7125080A>G (hg19) chr17:g.7221761A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221761A>G , CM000679.2:g.7221761A>G GRCh38
NC_000017.10:g.7125080A>G , CM000679.1:g.7125080A>G GRCh37
NC_000017.9:g.7065804A>G NCBI36
NG_007975.1:g.6928A>G
NG_008391.2:g.3290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622+79A>G MANE Select ENSP00000349297.5:n.622+79A>G
ENST00000322910.9:c.*577+79A>G ENSP00000325395.5:n.*577+79A>G
ENST00000350303.9:c.556+79A>G ENSP00000344152.5:n.556+79A>G
ENST00000356839.9:c.622+79A>G ENSP00000349297.5:n.622+79A>G
ENST00000543245.6:c.691+79A>G ENSP00000438689.2:n.691+79A>G
ENST00000577191.5:n.699+79A>G
ENST00000577857.5:n.438+79A>G
ENST00000579286.5:n.803+79A>G
ENST00000579886.2:c.460+79A>G ENSP00000463246.1:n.460+79A>G
ENST00000580365.1:n.353+79A>G
ENST00000581378.5:c.340+79A>G
ENST00000581562.5:n.525-191A>G
ENST00000583312.5:c.622+79A>G ENSP00000467920.1:n.622+79A>G
ENST00000583760.1:n.404+79A>G
NM_000018.3:c.622+79A>G NP_000009.1:n.622+79A>G
NM_001033859.2:c.556+79A>G NP_001029031.1:n.556+79A>G
NM_001270447.1:c.691+79A>G NP_001257376.1:n.691+79A>G
NM_001270448.1:c.394+79A>G NP_001257377.1:n.394+79A>G
XM_006721516.2:c.622+79A>G XP_006721579.2:n.622+79A>G
XM_011523829.1:c.622+79A>G XP_011522131.1:n.622+79A>G
XM_011523830.1:c.622+79A>G XP_011522132.1:n.622+79A>G
XR_934021.1:n.729+79A>G
XR_934022.1:n.729+79A>G
XR_934023.1:n.729+79A>G
XM_006721516.3:c.622+79A>G XP_006721579.2:n.622+79A>G
XM_011523829.2:c.622+79A>G XP_011522131.1:n.622+79A>G
XM_011523830.2:c.622+79A>G XP_011522132.1:n.622+79A>G
XM_024450741.1:c.622+79A>G XP_024306509.1:n.622+79A>G
XR_934021.2:n.681+79A>G
XR_934022.2:n.681+79A>G
XR_934023.2:n.681+79A>G
NM_000018.4:c.622+79A>G MANE Select NP_000009.1:n.622+79A>G
NM_001033859.3:c.556+79A>G NP_001029031.1:n.556+79A>G
NM_001270447.2:c.691+79A>G NP_001257376.1:n.691+79A>G
NM_001270448.2:c.394+79A>G NP_001257377.1:n.394+79A>G
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