Canonical Allele Identifier: CA497619936
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs777031338
gnomAD v2: 17-7125568-G-A
gnomAD v4: 17-7222249-G-A
MyVariant Identifiers: chr17:g.7125568G>A (hg19) chr17:g.7222249G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222249G>A , CM000679.2:g.7222249G>A GRCh38
NC_000017.10:g.7125568G>A , CM000679.1:g.7125568G>A GRCh37
NC_000017.9:g.7066292G>A NCBI36
NG_007975.1:g.7416G>A
NG_008391.2:g.2802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.825G>A MANE Select ENSP00000349297.5:p.Val275=
ENST00000322910.9:c.*780G>A ENSP00000325395.5:n.*780G>A
ENST00000350303.9:c.759G>A ENSP00000344152.5:p.Val253=
ENST00000356839.9:c.825G>A ENSP00000349297.5:p.Val275=
ENST00000543245.6:c.894G>A ENSP00000438689.2:p.Val298=
ENST00000577191.5:n.997G>A
ENST00000581378.5:c.543G>A
ENST00000582379.1:n.209G>A
NM_000018.3:c.825G>A NP_000009.1:p.Val275=
NM_001033859.2:c.759G>A NP_001029031.1:p.Val253=
NM_001270447.1:c.894G>A NP_001257376.1:p.Val298=
NM_001270448.1:c.597G>A NP_001257377.1:p.Val199=
XM_006721516.2:c.825G>A XP_006721579.2:p.Val275=
XM_011523829.1:c.825G>A XP_011522131.1:p.Val275=
XM_011523830.1:c.825G>A XP_011522132.1:p.Val275=
XR_934021.1:n.932G>A
XR_934022.1:n.932G>A
XR_934023.1:n.932G>A
XM_006721516.3:c.825G>A XP_006721579.2:p.Val275=
XM_011523829.2:c.825G>A XP_011522131.1:p.Val275=
XM_011523830.2:c.825G>A XP_011522132.1:p.Val275=
XM_024450741.1:c.825G>A XP_024306509.1:p.Val275=
XR_934021.2:n.884G>A
XR_934022.2:n.884G>A
XR_934023.2:n.884G>A
NM_000018.4:c.825G>A MANE Select NP_000009.1:p.Val275=
NM_001033859.3:c.759G>A NP_001029031.1:p.Val253=
NM_001270447.2:c.894G>A NP_001257376.1:p.Val298=
NM_001270448.2:c.597G>A NP_001257377.1:p.Val199=
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