Canonical Allele Identifier: CA397726169

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1408497
• ClinVar RCV Id: RCV001938060
• dbSNP Id: rs1210477732
• gnomAD v3: 17-7225042-C-T
• gnomAD v4: 17-7225042-C-T
• MyVariant Identifiers: chr17:g.7128361C>T (hg19) ; chr17:g.7225042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225042C>T , CM000679.2:g.7225042C>T	GRCh38
NC_000017.10:g.7128361C>T , CM000679.1:g.7128361C>T	GRCh37
NC_000017.9:g.7069085C>T	NCBI36
NG_007975.1:g.10209C>T
NG_008391.2:g.9G>A
NG_033038.1:g.14503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1913C>T MANE Select	ENSP00000349297.5:p.Ser638Phe
ENST00000322910.9:c.*1868C>T	ENSP00000325395.5:n.*1868C>T
ENST00000350303.9:c.1847C>T	ENSP00000344152.5:p.Ser616Phe
ENST00000356839.9:c.1913C>T	ENSP00000349297.5:p.Ser638Phe
ENST00000542255.6:c.792C>T
ENST00000543245.6:c.1982C>T	ENSP00000438689.2:p.Ser661Phe
ENST00000578033.1:n.338C>T
ENST00000578319.5:n.494C>T
ENST00000578711.1:n.1538C>T
ENST00000578809.5:n.485C>T
ENST00000579425.5:n.1029C>T
ENST00000583848.5:c.279C>T	ENSP00000466487.1:n.279C>T
ENST00000583850.5:n.684C>T
ENST00000583858.5:c.844C>T
NM_000018.3:c.1913C>T	NP_000009.1:p.Ser638Phe
NM_001033859.2:c.1847C>T	NP_001029031.1:p.Ser616Phe
NM_001270447.1:c.1982C>T	NP_001257376.1:p.Ser661Phe
NM_001270448.1:c.1685C>T	NP_001257377.1:p.Ser562Phe
XM_006721516.2:c.1934C>T	XP_006721579.2:p.Ser645Phe
XM_011523829.1:c.1832C>T	XP_011522131.1:p.Ser611Phe
XM_011523830.1:c.1811C>T	XP_011522132.1:p.Ser604Phe
XR_934021.1:n.2016C>T
XR_934022.1:n.1922C>T
XR_934023.1:n.1943C>T
XM_006721516.3:c.1934C>T	XP_006721579.2:p.Ser645Phe
XM_011523829.2:c.1832C>T	XP_011522131.1:p.Ser611Phe
XM_011523830.2:c.1811C>T	XP_011522132.1:p.Ser604Phe
XM_024450741.1:c.1901C>T	XP_024306509.1:p.Ser634Phe
XR_934021.2:n.1968C>T
XR_934022.2:n.1874C>T
XR_934023.2:n.1895C>T
NM_000018.4:c.1913C>T MANE Select	NP_000009.1:p.Ser638Phe
NM_001033859.3:c.1847C>T	NP_001029031.1:p.Ser616Phe
NM_001270447.2:c.1982C>T	NP_001257376.1:p.Ser661Phe
NM_001270448.2:c.1685C>T	NP_001257377.1:p.Ser562Phe