Canonical Allele Identifier: CA8337979

Gene: ACADVL

Linked Data

• dbSNP Id: rs746806439
• ExAC: 17:7126548 G / C
• gnomAD v2: 17-7126548-G-C
• gnomAD v3: 17-7223229-G-C
• gnomAD v4: 17-7223229-G-C
• MyVariant Identifiers: chr17:g.7126548G>C (hg19) ; chr17:g.7223229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223229G>C , CM000679.2:g.7223229G>C	GRCh38
NC_000017.10:g.7126548G>C , CM000679.1:g.7126548G>C	GRCh37
NC_000017.9:g.7067272G>C	NCBI36
NG_007975.1:g.8396G>C
NG_008391.2:g.1822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1174G>C MANE Select	ENSP00000349297.5:p.Val392Leu
ENST00000322910.9:c.*1129G>C	ENSP00000325395.5:n.*1129G>C
ENST00000350303.9:c.1108G>C	ENSP00000344152.5:p.Val370Leu
ENST00000356839.9:c.1174G>C	ENSP00000349297.5:p.Val392Leu
ENST00000542255.6:c.32G>C
ENST00000543245.6:c.1243G>C	ENSP00000438689.2:p.Val415Leu
ENST00000578579.2:n.123G>C
ENST00000578824.5:n.590G>C
ENST00000579425.5:n.198G>C
ENST00000579546.1:c.11G>C
ENST00000582379.1:n.825G>C
ENST00000583858.5:c.203G>C
ENST00000585203.6:n.382G>C
NM_000018.3:c.1174G>C	NP_000009.1:p.Val392Leu
NM_001033859.2:c.1108G>C	NP_001029031.1:p.Val370Leu
NM_001270447.1:c.1243G>C	NP_001257376.1:p.Val415Leu
NM_001270448.1:c.946G>C	NP_001257377.1:p.Val316Leu
XM_006721516.2:c.1174G>C	XP_006721579.2:p.Val392Leu
XM_011523829.1:c.1174G>C	XP_011522131.1:p.Val392Leu
XM_011523830.1:c.1174G>C	XP_011522132.1:p.Val392Leu
XR_934021.1:n.1281G>C
XR_934022.1:n.1281G>C
XR_934023.1:n.1281G>C
XM_006721516.3:c.1174G>C	XP_006721579.2:p.Val392Leu
XM_011523829.2:c.1174G>C	XP_011522131.1:p.Val392Leu
XM_011523830.2:c.1174G>C	XP_011522132.1:p.Val392Leu
XM_024450741.1:c.1174G>C	XP_024306509.1:p.Val392Leu
XR_934021.2:n.1233G>C
XR_934022.2:n.1233G>C
XR_934023.2:n.1233G>C
NM_000018.4:c.1174G>C MANE Select	NP_000009.1:p.Val392Leu
NM_001033859.3:c.1108G>C	NP_001029031.1:p.Val370Leu
NM_001270447.2:c.1243G>C	NP_001257376.1:p.Val415Leu
NM_001270448.2:c.946G>C	NP_001257377.1:p.Val316Leu