Canonical Allele Identifier: CA497693960
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1124630
ClinVar RCV Id: RCV001456095
dbSNP Id: rs2142976497
MyVariant Identifiers: chr17:g.7125272G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221953G>A , CM000679.2:g.7221953G>A GRCh38
NC_000017.10:g.7125272G>A , CM000679.1:g.7125272G>A GRCh37
NC_000017.9:g.7065996G>A NCBI36
NG_007975.1:g.7120G>A
NG_008391.2:g.3098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.624G>A MANE Select ENSP00000349297.5:p.Gly208=
ENST00000322910.9:c.*579G>A ENSP00000325395.5:n.*579G>A
ENST00000350303.9:c.558G>A ENSP00000344152.5:p.Gly186=
ENST00000356839.9:c.624G>A ENSP00000349297.5:p.Gly208=
ENST00000543245.6:c.693G>A ENSP00000438689.2:p.Gly231=
ENST00000577191.5:n.701G>A
ENST00000577857.5:n.440G>A
ENST00000579286.5:n.805G>A
ENST00000579886.2:c.462G>A ENSP00000463246.1:p.Gly154=
ENST00000580365.1:n.355G>A
ENST00000581378.5:c.342G>A
ENST00000581562.5:n.526G>A
ENST00000582379.1:n.8G>A
ENST00000583312.5:c.639G>A ENSP00000467920.1:p.Gly213=
ENST00000583760.1:n.406G>A
NM_000018.3:c.624G>A NP_000009.1:p.Gly208=
NM_001033859.2:c.558G>A NP_001029031.1:p.Gly186=
NM_001270447.1:c.693G>A NP_001257376.1:p.Gly231=
NM_001270448.1:c.396G>A NP_001257377.1:p.Gly132=
XM_006721516.2:c.624G>A XP_006721579.2:p.Gly208=
XM_011523829.1:c.624G>A XP_011522131.1:p.Gly208=
XM_011523830.1:c.624G>A XP_011522132.1:p.Gly208=
XR_934021.1:n.731G>A
XR_934022.1:n.731G>A
XR_934023.1:n.731G>A
XM_006721516.3:c.624G>A XP_006721579.2:p.Gly208=
XM_011523829.2:c.624G>A XP_011522131.1:p.Gly208=
XM_011523830.2:c.624G>A XP_011522132.1:p.Gly208=
XM_024450741.1:c.624G>A XP_024306509.1:p.Gly208=
XR_934021.2:n.683G>A
XR_934022.2:n.683G>A
XR_934023.2:n.683G>A
NM_000018.4:c.624G>A MANE Select NP_000009.1:p.Gly208=
NM_001033859.3:c.558G>A NP_001029031.1:p.Gly186=
NM_001270447.2:c.693G>A NP_001257376.1:p.Gly231=
NM_001270448.2:c.396G>A NP_001257377.1:p.Gly132=
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