Canonical Allele Identifier: CA8337750

Gene: ACADVL

Linked Data

• dbSNP Id: rs369560930
• ExAC: 17:7124899 G / T
• gnomAD v2: 17-7124899-G-T
• gnomAD v3: 17-7221580-G-T
• gnomAD v4: 17-7221580-G-T
• MyVariant Identifiers: chr17:g.7124899G>T (hg19) ; chr17:g.7221580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221580G>T , CM000679.2:g.7221580G>T	GRCh38
NC_000017.10:g.7124899G>T , CM000679.1:g.7124899G>T	GRCh37
NC_000017.9:g.7065623G>T	NCBI36
NG_007975.1:g.6747G>T
NG_008391.2:g.3471C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.520G>T MANE Select	ENSP00000349297.5:p.Val174Leu
ENST00000322910.9:c.*475G>T	ENSP00000325395.5:n.*475G>T
ENST00000350303.9:c.454G>T	ENSP00000344152.5:p.Val152Leu
ENST00000356839.9:c.520G>T	ENSP00000349297.5:p.Val174Leu
ENST00000543245.6:c.589G>T	ENSP00000438689.2:p.Val197Leu
ENST00000577191.5:n.597G>T
ENST00000577433.5:n.728G>T
ENST00000577857.5:n.336G>T
ENST00000579286.5:n.701G>T
ENST00000579886.2:c.358G>T	ENSP00000463246.1:p.Val120Leu
ENST00000580365.1:n.251G>T
ENST00000581378.5:c.238G>T
ENST00000581562.5:n.525-372G>T
ENST00000582166.1:n.501G>T
ENST00000583312.5:c.520G>T	ENSP00000467920.1:p.Val174Leu
ENST00000583760.1:n.302G>T
NM_000018.3:c.520G>T	NP_000009.1:p.Val174Leu
NM_001033859.2:c.454G>T	NP_001029031.1:p.Val152Leu
NM_001270447.1:c.589G>T	NP_001257376.1:p.Val197Leu
NM_001270448.1:c.292G>T	NP_001257377.1:p.Val98Leu
XM_006721516.2:c.520G>T	XP_006721579.2:p.Val174Leu
XM_011523829.1:c.520G>T	XP_011522131.1:p.Val174Leu
XM_011523830.1:c.520G>T	XP_011522132.1:p.Val174Leu
XR_934021.1:n.627G>T
XR_934022.1:n.627G>T
XR_934023.1:n.627G>T
XM_006721516.3:c.520G>T	XP_006721579.2:p.Val174Leu
XM_011523829.2:c.520G>T	XP_011522131.1:p.Val174Leu
XM_011523830.2:c.520G>T	XP_011522132.1:p.Val174Leu
XM_024450741.1:c.520G>T	XP_024306509.1:p.Val174Leu
XR_934021.2:n.579G>T
XR_934022.2:n.579G>T
XR_934023.2:n.579G>T
NM_000018.4:c.520G>T MANE Select	NP_000009.1:p.Val174Leu
NM_001033859.3:c.454G>T	NP_001029031.1:p.Val152Leu
NM_001270447.2:c.589G>T	NP_001257376.1:p.Val197Leu
NM_001270448.2:c.292G>T	NP_001257377.1:p.Val98Leu