Canonical Allele Identifier: CA397725795

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 623375
• ClinVar RCV Id: RCV000761524
• dbSNP Id: rs1567569262
• MyVariant Identifiers: chr17:g.7128034G>A (hg19) ; chr17:g.7224715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224715G>A , CM000679.2:g.7224715G>A	GRCh38
NC_000017.10:g.7128034G>A , CM000679.1:g.7128034G>A	GRCh37
NC_000017.9:g.7068758G>A	NCBI36
NG_007975.1:g.9882G>A
NG_008391.2:g.336C>T
NG_033038.1:g.14830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+1G>A MANE Select	ENSP00000349297.5:n.1751+1G>A
ENST00000322910.9:c.*1706+1G>A	ENSP00000325395.5:n.*1706+1G>A
ENST00000350303.9:c.1685+1G>A	ENSP00000344152.5:n.1685+1G>A
ENST00000356839.9:c.1751+1G>A	ENSP00000349297.5:n.1751+1G>A
ENST00000542255.6:c.537G>A
ENST00000543245.6:c.1820+1G>A	ENSP00000438689.2:n.1820+1G>A
ENST00000578033.1:n.83G>A
ENST00000578319.5:n.332+1G>A
ENST00000578711.1:n.1211G>A
ENST00000578809.5:n.323+1G>A
ENST00000579425.5:n.867+1G>A
ENST00000579546.1:c.486+1G>A
ENST00000583074.5:n.300G>A
ENST00000583848.5:c.117+1G>A	ENSP00000466487.1:n.117+1G>A
ENST00000583850.5:n.522+1G>A
ENST00000583858.5:c.682+1G>A
ENST00000585203.6:n.942+1G>A
NM_000018.3:c.1751+1G>A	NP_000009.1:n.1751+1G>A
NM_001033859.2:c.1685+1G>A	NP_001029031.1:n.1685+1G>A
NM_001270447.1:c.1820+1G>A	NP_001257376.1:n.1820+1G>A
NM_001270448.1:c.1523+1G>A	NP_001257377.1:n.1523+1G>A
XM_006721516.2:c.1679G>A	XP_006721579.2:p.Ser560Asn
XM_011523829.1:c.1577G>A	XP_011522131.1:p.Ser526Asn
XM_011523830.1:c.1649+1G>A	XP_011522132.1:n.1649+1G>A
XR_934021.1:n.1854+1G>A
XR_934022.1:n.1760+1G>A
XR_934023.1:n.1688G>A
XM_006721516.3:c.1679G>A	XP_006721579.2:p.Ser560Asn
XM_011523829.2:c.1577G>A	XP_011522131.1:p.Ser526Asn
XM_011523830.2:c.1649+1G>A	XP_011522132.1:n.1649+1G>A
XM_024450741.1:c.1739+1G>A	XP_024306509.1:n.1739+1G>A
XR_934021.2:n.1806+1G>A
XR_934022.2:n.1712+1G>A
XR_934023.2:n.1640G>A
NM_000018.4:c.1751+1G>A MANE Select	NP_000009.1:n.1751+1G>A
NM_001033859.3:c.1685+1G>A	NP_001029031.1:n.1685+1G>A
NM_001270447.2:c.1820+1G>A	NP_001257376.1:n.1820+1G>A
NM_001270448.2:c.1523+1G>A	NP_001257377.1:n.1523+1G>A