Canonical Allele Identifier: CA397722399

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2866579
• ClinVar RCV Id: RCV003600069
• dbSNP Id: rs1460278489
• gnomAD v3: 17-7220638-G-C
• gnomAD v4: 17-7220638-G-C
• MyVariant Identifiers: chr17:g.7123957G>C (hg19) ; chr17:g.7220638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220638G>C , CM000679.2:g.7220638G>C	GRCh38
NC_000017.10:g.7123957G>C , CM000679.1:g.7123957G>C	GRCh37
NC_000017.9:g.7064681G>C	NCBI36
NG_007975.1:g.5805G>C
NG_008391.2:g.4413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.239G>C MANE Select	ENSP00000349297.5:p.Gly80Ala
ENST00000322910.9:c.*194G>C	ENSP00000325395.5:n.*194G>C
ENST00000350303.9:c.173G>C	ENSP00000344152.5:p.Gly58Ala
ENST00000356839.9:c.239G>C	ENSP00000349297.5:p.Gly80Ala
ENST00000543245.6:c.308G>C	ENSP00000438689.2:p.Gly103Ala
ENST00000577191.5:n.316G>C
ENST00000577433.5:n.447G>C
ENST00000577857.5:n.229-128G>C
ENST00000578269.5:n.686G>C
ENST00000578421.1:n.447G>C
ENST00000579286.5:n.420G>C
ENST00000579886.2:c.201+112G>C	ENSP00000463246.1:n.201+112G>C
ENST00000580263.5:n.403G>C
ENST00000581562.5:n.286G>C
ENST00000582056.5:n.329G>C
ENST00000582166.1:n.127G>C
ENST00000582356.5:n.438G>C
ENST00000583312.5:c.239G>C	ENSP00000467920.1:p.Gly80Ala
ENST00000584103.5:c.239G>C	ENSP00000465353.1:p.Gly80Ala
NM_000018.3:c.239G>C	NP_000009.1:p.Gly80Ala
NM_001033859.2:c.173G>C	NP_001029031.1:p.Gly58Ala
NM_001270447.1:c.308G>C	NP_001257376.1:p.Gly103Ala
NM_001270448.1:c.11G>C	NP_001257377.1:p.Gly4Ala
XM_006721516.2:c.239G>C	XP_006721579.2:p.Gly80Ala
XM_011523829.1:c.239G>C	XP_011522131.1:p.Gly80Ala
XM_011523830.1:c.239G>C	XP_011522132.1:p.Gly80Ala
XR_934021.1:n.346G>C
XR_934022.1:n.346G>C
XR_934023.1:n.346G>C
XM_006721516.3:c.239G>C	XP_006721579.2:p.Gly80Ala
XM_011523829.2:c.239G>C	XP_011522131.1:p.Gly80Ala
XM_011523830.2:c.239G>C	XP_011522132.1:p.Gly80Ala
XM_024450741.1:c.239G>C	XP_024306509.1:p.Gly80Ala
XR_934021.2:n.298G>C
XR_934022.2:n.298G>C
XR_934023.2:n.298G>C
NM_000018.4:c.239G>C MANE Select	NP_000009.1:p.Gly80Ala
NM_001033859.3:c.173G>C	NP_001029031.1:p.Gly58Ala
NM_001270447.2:c.308G>C	NP_001257376.1:p.Gly103Ala
NM_001270448.2:c.11G>C	NP_001257377.1:p.Gly4Ala