Canonical Allele Identifier: CA397725498

Gene: ACADVL

Linked Data

• dbSNP Id: rs865963860
• gnomAD v2: 17-7127811-C-G
• gnomAD v4: 17-7224492-C-G
• MyVariant Identifiers: chr17:g.7127811C>G (hg19) ; chr17:g.7224492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224492C>G , CM000679.2:g.7224492C>G	GRCh38
NC_000017.10:g.7127811C>G , CM000679.1:g.7127811C>G	GRCh37
NC_000017.9:g.7068535C>G	NCBI36
NG_007975.1:g.9659C>G
NG_008391.2:g.559G>C
NG_033038.1:g.15053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1618C>G MANE Select	ENSP00000349297.5:p.Leu540Val
ENST00000322910.9:c.*1573C>G	ENSP00000325395.5:n.*1573C>G
ENST00000350303.9:c.1552C>G	ENSP00000344152.5:p.Leu518Val
ENST00000356839.9:c.1618C>G	ENSP00000349297.5:p.Leu540Val
ENST00000542255.6:c.476C>G
ENST00000543245.6:c.1687C>G	ENSP00000438689.2:p.Leu563Val
ENST00000578319.5:n.199C>G
ENST00000578711.1:n.988C>G
ENST00000578809.5:n.190C>G
ENST00000579391.1:n.222C>G
ENST00000579425.5:n.734C>G
ENST00000579546.1:c.353C>G
ENST00000579894.5:n.405C>G
ENST00000582450.1:n.126C>G
ENST00000583074.5:n.239C>G
ENST00000583848.5:c.4C>G	ENSP00000466487.1:p.Leu2Val
ENST00000583850.5:n.389C>G
ENST00000583858.5:c.549C>G
ENST00000585203.6:n.809C>G
NM_000018.3:c.1618C>G	NP_000009.1:p.Leu540Val
NM_001033859.2:c.1552C>G	NP_001029031.1:p.Leu518Val
NM_001270447.1:c.1687C>G	NP_001257376.1:p.Leu563Val
NM_001270448.1:c.1390C>G	NP_001257377.1:p.Leu464Val
XM_006721516.2:c.1618C>G	XP_006721579.2:p.Leu540Val
XM_011523829.1:c.1516C>G	XP_011522131.1:p.Leu506Val
XM_011523830.1:c.1516C>G	XP_011522132.1:p.Leu506Val
XR_934021.1:n.1721C>G
XR_934022.1:n.1627C>G
XR_934023.1:n.1627C>G
XM_006721516.3:c.1618C>G	XP_006721579.2:p.Leu540Val
XM_011523829.2:c.1516C>G	XP_011522131.1:p.Leu506Val
XM_011523830.2:c.1516C>G	XP_011522132.1:p.Leu506Val
XM_024450741.1:c.1606C>G	XP_024306509.1:p.Leu536Val
XR_934021.2:n.1673C>G
XR_934022.2:n.1579C>G
XR_934023.2:n.1579C>G
NM_000018.4:c.1618C>G MANE Select	NP_000009.1:p.Leu540Val
NM_001033859.3:c.1552C>G	NP_001029031.1:p.Leu518Val
NM_001270447.2:c.1687C>G	NP_001257376.1:p.Leu563Val
NM_001270448.2:c.1390C>G	NP_001257377.1:p.Leu464Val