Canonical Allele Identifier: CA497693748

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1584900
• ClinVar RCV Id: RCV002102929
• dbSNP Id: rs1597525140
• gnomAD v4: 17-7221597-G-A
• MyVariant Identifiers: chr17:g.7124916G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221597G>A , CM000679.2:g.7221597G>A	GRCh38
NC_000017.10:g.7124916G>A , CM000679.1:g.7124916G>A	GRCh37
NC_000017.9:g.7065640G>A	NCBI36
NG_007975.1:g.6764G>A
NG_008391.2:g.3454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.537G>A MANE Select	ENSP00000349297.5:p.Gly179=
ENST00000322910.9:c.*492G>A	ENSP00000325395.5:n.*492G>A
ENST00000350303.9:c.471G>A	ENSP00000344152.5:p.Gly157=
ENST00000356839.9:c.537G>A	ENSP00000349297.5:p.Gly179=
ENST00000543245.6:c.606G>A	ENSP00000438689.2:p.Gly202=
ENST00000577191.5:n.614G>A
ENST00000577433.5:n.745G>A
ENST00000577857.5:n.353G>A
ENST00000579286.5:n.718G>A
ENST00000579886.2:c.375G>A	ENSP00000463246.1:p.Gly125=
ENST00000580365.1:n.268G>A
ENST00000581378.5:c.255G>A
ENST00000581562.5:n.525-355G>A
ENST00000582166.1:n.518G>A
ENST00000583312.5:c.537G>A	ENSP00000467920.1:p.Gly179=
ENST00000583760.1:n.319G>A
NM_000018.3:c.537G>A	NP_000009.1:p.Gly179=
NM_001033859.2:c.471G>A	NP_001029031.1:p.Gly157=
NM_001270447.1:c.606G>A	NP_001257376.1:p.Gly202=
NM_001270448.1:c.309G>A	NP_001257377.1:p.Gly103=
XM_006721516.2:c.537G>A	XP_006721579.2:p.Gly179=
XM_011523829.1:c.537G>A	XP_011522131.1:p.Gly179=
XM_011523830.1:c.537G>A	XP_011522132.1:p.Gly179=
XR_934021.1:n.644G>A
XR_934022.1:n.644G>A
XR_934023.1:n.644G>A
XM_006721516.3:c.537G>A	XP_006721579.2:p.Gly179=
XM_011523829.2:c.537G>A	XP_011522131.1:p.Gly179=
XM_011523830.2:c.537G>A	XP_011522132.1:p.Gly179=
XM_024450741.1:c.537G>A	XP_024306509.1:p.Gly179=
XR_934021.2:n.596G>A
XR_934022.2:n.596G>A
XR_934023.2:n.596G>A
NM_000018.4:c.537G>A MANE Select	NP_000009.1:p.Gly179=
NM_001033859.3:c.471G>A	NP_001029031.1:p.Gly157=
NM_001270447.2:c.606G>A	NP_001257376.1:p.Gly202=
NM_001270448.2:c.309G>A	NP_001257377.1:p.Gly103=