Canonical Allele Identifier: CA497693809
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1537995
ClinVar RCV Id: RCV002092819
dbSNP Id: rs2142975004
MyVariant Identifiers: chr17:g.7124988C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221669C>A , CM000679.2:g.7221669C>A GRCh38
NC_000017.10:g.7124988C>A , CM000679.1:g.7124988C>A GRCh37
NC_000017.9:g.7065712C>A NCBI36
NG_007975.1:g.6836C>A
NG_008391.2:g.3382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.609C>A MANE Select ENSP00000349297.5:p.Pro203=
ENST00000322910.9:c.*564C>A ENSP00000325395.5:n.*564C>A
ENST00000350303.9:c.543C>A ENSP00000344152.5:p.Pro181=
ENST00000356839.9:c.609C>A ENSP00000349297.5:p.Pro203=
ENST00000543245.6:c.678C>A ENSP00000438689.2:p.Pro226=
ENST00000577191.5:n.686C>A
ENST00000577857.5:n.425C>A
ENST00000579286.5:n.790C>A
ENST00000579886.2:c.447C>A ENSP00000463246.1:p.Pro149=
ENST00000580365.1:n.340C>A
ENST00000581378.5:c.327C>A
ENST00000581562.5:n.525-283C>A
ENST00000583312.5:c.609C>A ENSP00000467920.1:p.Pro203=
ENST00000583760.1:n.391C>A
NM_000018.3:c.609C>A NP_000009.1:p.Pro203=
NM_001033859.2:c.543C>A NP_001029031.1:p.Pro181=
NM_001270447.1:c.678C>A NP_001257376.1:p.Pro226=
NM_001270448.1:c.381C>A NP_001257377.1:p.Pro127=
XM_006721516.2:c.609C>A XP_006721579.2:p.Pro203=
XM_011523829.1:c.609C>A XP_011522131.1:p.Pro203=
XM_011523830.1:c.609C>A XP_011522132.1:p.Pro203=
XR_934021.1:n.716C>A
XR_934022.1:n.716C>A
XR_934023.1:n.716C>A
XM_006721516.3:c.609C>A XP_006721579.2:p.Pro203=
XM_011523829.2:c.609C>A XP_011522131.1:p.Pro203=
XM_011523830.2:c.609C>A XP_011522132.1:p.Pro203=
XM_024450741.1:c.609C>A XP_024306509.1:p.Pro203=
XR_934021.2:n.668C>A
XR_934022.2:n.668C>A
XR_934023.2:n.668C>A
NM_000018.4:c.609C>A MANE Select NP_000009.1:p.Pro203=
NM_001033859.3:c.543C>A NP_001029031.1:p.Pro181=
NM_001270447.2:c.678C>A NP_001257376.1:p.Pro226=
NM_001270448.2:c.381C>A NP_001257377.1:p.Pro127=
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