Canonical Allele Identifier: CA397726268

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1330757
• ClinVar RCV Id: RCV001802416
• dbSNP Id: rs377659973
• MyVariant Identifiers: chr17:g.7128412T>C (hg19) ; chr17:g.7225093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225093T>C , CM000679.2:g.7225093T>C	GRCh38
NC_000017.10:g.7128412T>C , CM000679.1:g.7128412T>C	GRCh37
NC_000017.9:g.7069136T>C	NCBI36
NG_007975.1:g.10260T>C
NG_033038.1:g.14452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1964T>C MANE Select	ENSP00000349297.5:p.Phe655Ser
ENST00000322910.9:c.*1919T>C	ENSP00000325395.5:n.*1919T>C
ENST00000350303.9:c.1898T>C	ENSP00000344152.5:p.Phe633Ser
ENST00000356839.9:c.1964T>C	ENSP00000349297.5:p.Phe655Ser
ENST00000542255.6:c.843T>C
ENST00000543245.6:c.2033T>C	ENSP00000438689.2:p.Phe678Ser
ENST00000578033.1:n.389T>C
ENST00000578319.5:n.545T>C
ENST00000578711.1:n.1589T>C
ENST00000578809.5:n.536T>C
ENST00000579425.5:n.1080T>C
ENST00000583848.5:c.330T>C	ENSP00000466487.1:n.330T>C
ENST00000583850.5:n.735T>C
ENST00000583858.5:c.895T>C
NM_000018.3:c.1964T>C	NP_000009.1:p.Phe655Ser
NM_001033859.2:c.1898T>C	NP_001029031.1:p.Phe633Ser
NM_001270447.1:c.2033T>C	NP_001257376.1:p.Phe678Ser
NM_001270448.1:c.1736T>C	NP_001257377.1:p.Phe579Ser
XM_006721516.2:c.1985T>C	XP_006721579.2:p.Phe662Ser
XM_011523829.1:c.1883T>C	XP_011522131.1:p.Phe628Ser
XM_011523830.1:c.1862T>C	XP_011522132.1:p.Phe621Ser
XR_934021.1:n.2067T>C
XR_934022.1:n.1973T>C
XR_934023.1:n.1994T>C
XM_006721516.3:c.1985T>C	XP_006721579.2:p.Phe662Ser
XM_011523829.2:c.1883T>C	XP_011522131.1:p.Phe628Ser
XM_011523830.2:c.1862T>C	XP_011522132.1:p.Phe621Ser
XM_024450741.1:c.1952T>C	XP_024306509.1:p.Phe651Ser
XR_934021.2:n.2019T>C
XR_934022.2:n.1925T>C
XR_934023.2:n.1946T>C
NM_000018.4:c.1964T>C MANE Select	NP_000009.1:p.Phe655Ser
NM_001033859.3:c.1898T>C	NP_001029031.1:p.Phe633Ser
NM_001270447.2:c.2033T>C	NP_001257376.1:p.Phe678Ser
NM_001270448.2:c.1736T>C	NP_001257377.1:p.Phe579Ser