Canonical Allele Identifier: CA397724951

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932768
• ClinVar RCV Id: RCV001200709
• dbSNP Id: rs1419606204
• MyVariant Identifiers: chr17:g.7127314G>C (hg19) ; chr17:g.7223995G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223995G>C , CM000679.2:g.7223995G>C	GRCh38
NC_000017.10:g.7127314G>C , CM000679.1:g.7127314G>C	GRCh37
NC_000017.9:g.7068038G>C	NCBI36
NG_007975.1:g.9162G>C
NG_008391.2:g.1056C>G
NG_033038.1:g.15550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1360G>C MANE Select	ENSP00000349297.5:p.Asp454His
ENST00000322910.9:c.*1315G>C	ENSP00000325395.5:n.*1315G>C
ENST00000350303.9:c.1294G>C	ENSP00000344152.5:p.Asp432His
ENST00000356839.9:c.1360G>C	ENSP00000349297.5:p.Asp454His
ENST00000542255.6:c.218G>C
ENST00000543245.6:c.1429G>C	ENSP00000438689.2:p.Asp477His
ENST00000578711.1:n.491G>C
ENST00000579425.5:n.476G>C
ENST00000579546.1:c.197G>C
ENST00000579894.5:n.71G>C
ENST00000583074.5:n.79G>C
ENST00000583850.5:n.135G>C
ENST00000583858.5:c.389G>C
ENST00000585203.6:n.551G>C
NM_000018.3:c.1360G>C	NP_000009.1:p.Asp454His
NM_001033859.2:c.1294G>C	NP_001029031.1:p.Asp432His
NM_001270447.1:c.1429G>C	NP_001257376.1:p.Asp477His
NM_001270448.1:c.1132G>C	NP_001257377.1:p.Asp378His
XM_006721516.2:c.1360G>C	XP_006721579.2:p.Asp454His
XM_011523829.1:c.1360G>C	XP_011522131.1:p.Asp454His
XM_011523830.1:c.1360G>C	XP_011522132.1:p.Asp454His
XR_934021.1:n.1467G>C
XR_934022.1:n.1467G>C
XR_934023.1:n.1467G>C
XM_006721516.3:c.1360G>C	XP_006721579.2:p.Asp454His
XM_011523829.2:c.1360G>C	XP_011522131.1:p.Asp454His
XM_011523830.2:c.1360G>C	XP_011522132.1:p.Asp454His
XM_024450741.1:c.1360G>C	XP_024306509.1:p.Asp454His
XR_934021.2:n.1419G>C
XR_934022.2:n.1419G>C
XR_934023.2:n.1419G>C
NM_000018.4:c.1360G>C MANE Select	NP_000009.1:p.Asp454His
NM_001033859.3:c.1294G>C	NP_001029031.1:p.Asp432His
NM_001270447.2:c.1429G>C	NP_001257376.1:p.Asp477His
NM_001270448.2:c.1132G>C	NP_001257377.1:p.Asp378His