Canonical Allele Identifier: CA497619698

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2760382
• ClinVar RCV Id: RCV003498598
• gnomAD v4: 17-7221552-G-A
• MyVariant Identifiers: chr17:g.7124871G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221552G>A , CM000679.2:g.7221552G>A	GRCh38
NC_000017.10:g.7124871G>A , CM000679.1:g.7124871G>A	GRCh37
NC_000017.9:g.7065595G>A	NCBI36
NG_007975.1:g.6719G>A
NG_008391.2:g.3499C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.492G>A MANE Select	ENSP00000349297.5:p.Val164=
ENST00000322910.9:c.*447G>A	ENSP00000325395.5:n.*447G>A
ENST00000350303.9:c.426G>A	ENSP00000344152.5:p.Val142=
ENST00000356839.9:c.492G>A	ENSP00000349297.5:p.Val164=
ENST00000543245.6:c.561G>A	ENSP00000438689.2:p.Val187=
ENST00000577191.5:n.569G>A
ENST00000577433.5:n.700G>A
ENST00000577857.5:n.308G>A
ENST00000579286.5:n.673G>A
ENST00000579886.2:c.330G>A	ENSP00000463246.1:p.Val110=
ENST00000580365.1:n.223G>A
ENST00000581378.5:c.210G>A
ENST00000581562.5:n.525-400G>A
ENST00000582166.1:n.473G>A
ENST00000583312.5:c.492G>A	ENSP00000467920.1:p.Val164=
ENST00000583760.1:n.274G>A
NM_000018.3:c.492G>A	NP_000009.1:p.Val164=
NM_001033859.2:c.426G>A	NP_001029031.1:p.Val142=
NM_001270447.1:c.561G>A	NP_001257376.1:p.Val187=
NM_001270448.1:c.264G>A	NP_001257377.1:p.Val88=
XM_006721516.2:c.492G>A	XP_006721579.2:p.Val164=
XM_011523829.1:c.492G>A	XP_011522131.1:p.Val164=
XM_011523830.1:c.492G>A	XP_011522132.1:p.Val164=
XR_934021.1:n.599G>A
XR_934022.1:n.599G>A
XR_934023.1:n.599G>A
XM_006721516.3:c.492G>A	XP_006721579.2:p.Val164=
XM_011523829.2:c.492G>A	XP_011522131.1:p.Val164=
XM_011523830.2:c.492G>A	XP_011522132.1:p.Val164=
XM_024450741.1:c.492G>A	XP_024306509.1:p.Val164=
XR_934021.2:n.551G>A
XR_934022.2:n.551G>A
XR_934023.2:n.551G>A
NM_000018.4:c.492G>A MANE Select	NP_000009.1:p.Val164=
NM_001033859.3:c.426G>A	NP_001029031.1:p.Val142=
NM_001270447.2:c.561G>A	NP_001257376.1:p.Val187=
NM_001270448.2:c.264G>A	NP_001257377.1:p.Val88=