Canonical Allele Identifier: CA497694175

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1589058
• ClinVar RCV Id: RCV002098677
• dbSNP Id: rs2142985083
• gnomAD v4: 17-7223836-T-C
• MyVariant Identifiers: chr17:g.7127155T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223836T>C , CM000679.2:g.7223836T>C	GRCh38
NC_000017.10:g.7127155T>C , CM000679.1:g.7127155T>C	GRCh37
NC_000017.9:g.7067879T>C	NCBI36
NG_007975.1:g.9003T>C
NG_008391.2:g.1215A>G
NG_033038.1:g.15709A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1293T>C MANE Select	ENSP00000349297.5:p.Asp431=
ENST00000322910.9:c.*1248T>C	ENSP00000325395.5:n.*1248T>C
ENST00000350303.9:c.1227T>C	ENSP00000344152.5:p.Asp409=
ENST00000356839.9:c.1293T>C	ENSP00000349297.5:p.Asp431=
ENST00000542255.6:c.151T>C
ENST00000543245.6:c.1362T>C	ENSP00000438689.2:p.Asp454=
ENST00000578711.1:n.332T>C
ENST00000578824.5:n.709T>C
ENST00000579425.5:n.317T>C
ENST00000579546.1:c.130T>C
ENST00000583074.5:n.12T>C
ENST00000583850.5:n.68T>C
ENST00000583858.5:c.322T>C
ENST00000585203.6:n.501T>C
NM_000018.3:c.1293T>C	NP_000009.1:p.Asp431=
NM_001033859.2:c.1227T>C	NP_001029031.1:p.Asp409=
NM_001270447.1:c.1362T>C	NP_001257376.1:p.Asp454=
NM_001270448.1:c.1065T>C	NP_001257377.1:p.Asp355=
XM_006721516.2:c.1293T>C	XP_006721579.2:p.Asp431=
XM_011523829.1:c.1293T>C	XP_011522131.1:p.Asp431=
XM_011523830.1:c.1293T>C	XP_011522132.1:p.Asp431=
XR_934021.1:n.1400T>C
XR_934022.1:n.1400T>C
XR_934023.1:n.1400T>C
XM_006721516.3:c.1293T>C	XP_006721579.2:p.Asp431=
XM_011523829.2:c.1293T>C	XP_011522131.1:p.Asp431=
XM_011523830.2:c.1293T>C	XP_011522132.1:p.Asp431=
XM_024450741.1:c.1293T>C	XP_024306509.1:p.Asp431=
XR_934021.2:n.1352T>C
XR_934022.2:n.1352T>C
XR_934023.2:n.1352T>C
NM_000018.4:c.1293T>C MANE Select	NP_000009.1:p.Asp431=
NM_001033859.3:c.1227T>C	NP_001029031.1:p.Asp409=
NM_001270447.2:c.1362T>C	NP_001257376.1:p.Asp454=
NM_001270448.2:c.1065T>C	NP_001257377.1:p.Asp355=