Canonical Allele Identifier: CA287441496

Gene: ACADVL

Linked Data

• dbSNP Id: rs983320737
• gnomAD v3: 17-7225086-C-G
• gnomAD v4: 17-7225086-C-G
• MyVariant Identifiers: chr17:g.7128405C>G (hg19) ; chr17:g.7225086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225086C>G , CM000679.2:g.7225086C>G	GRCh38
NC_000017.10:g.7128405C>G , CM000679.1:g.7128405C>G	GRCh37
NC_000017.9:g.7069129C>G	NCBI36
NG_007975.1:g.10253C>G
NG_033038.1:g.14459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1957C>G MANE Select	ENSP00000349297.5:p.Leu653Val
ENST00000322910.9:c.*1912C>G	ENSP00000325395.5:n.*1912C>G
ENST00000350303.9:c.1891C>G	ENSP00000344152.5:p.Leu631Val
ENST00000356839.9:c.1957C>G	ENSP00000349297.5:p.Leu653Val
ENST00000542255.6:c.836C>G
ENST00000543245.6:c.2026C>G	ENSP00000438689.2:p.Leu676Val
ENST00000578033.1:n.382C>G
ENST00000578319.5:n.538C>G
ENST00000578711.1:n.1582C>G
ENST00000578809.5:n.529C>G
ENST00000579425.5:n.1073C>G
ENST00000583848.5:c.323C>G	ENSP00000466487.1:n.323C>G
ENST00000583850.5:n.728C>G
ENST00000583858.5:c.888C>G
NM_000018.3:c.1957C>G	NP_000009.1:p.Leu653Val
NM_001033859.2:c.1891C>G	NP_001029031.1:p.Leu631Val
NM_001270447.1:c.2026C>G	NP_001257376.1:p.Leu676Val
NM_001270448.1:c.1729C>G	NP_001257377.1:p.Leu577Val
XM_006721516.2:c.1978C>G	XP_006721579.2:p.Leu660Val
XM_011523829.1:c.1876C>G	XP_011522131.1:p.Leu626Val
XM_011523830.1:c.1855C>G	XP_011522132.1:p.Leu619Val
XR_934021.1:n.2060C>G
XR_934022.1:n.1966C>G
XR_934023.1:n.1987C>G
XM_006721516.3:c.1978C>G	XP_006721579.2:p.Leu660Val
XM_011523829.2:c.1876C>G	XP_011522131.1:p.Leu626Val
XM_011523830.2:c.1855C>G	XP_011522132.1:p.Leu619Val
XM_024450741.1:c.1945C>G	XP_024306509.1:p.Leu649Val
XR_934021.2:n.2012C>G
XR_934022.2:n.1918C>G
XR_934023.2:n.1939C>G
NM_000018.4:c.1957C>G MANE Select	NP_000009.1:p.Leu653Val
NM_001033859.3:c.1891C>G	NP_001029031.1:p.Leu631Val
NM_001270447.2:c.2026C>G	NP_001257376.1:p.Leu676Val
NM_001270448.2:c.1729C>G	NP_001257377.1:p.Leu577Val