Canonical Allele Identifier: CA497694183

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1136688
• ClinVar RCV Id: RCV001472436
• dbSNP Id: rs1469316904
• gnomAD v2: 17-7127164-C-A
• gnomAD v3: 17-7223845-C-A
• gnomAD v4: 17-7223845-C-A
• MyVariant Identifiers: chr17:g.7127164C>A (hg19) ; chr17:g.7223845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223845C>A , CM000679.2:g.7223845C>A	GRCh38
NC_000017.10:g.7127164C>A , CM000679.1:g.7127164C>A	GRCh37
NC_000017.9:g.7067888C>A	NCBI36
NG_007975.1:g.9012C>A
NG_008391.2:g.1206G>T
NG_033038.1:g.15700G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1302C>A MANE Select	ENSP00000349297.5:p.Ile434=
ENST00000322910.9:c.*1257C>A	ENSP00000325395.5:n.*1257C>A
ENST00000350303.9:c.1236C>A	ENSP00000344152.5:p.Ile412=
ENST00000356839.9:c.1302C>A	ENSP00000349297.5:p.Ile434=
ENST00000542255.6:c.160C>A
ENST00000543245.6:c.1371C>A	ENSP00000438689.2:p.Ile457=
ENST00000578711.1:n.341C>A
ENST00000578824.5:n.718C>A
ENST00000579425.5:n.326C>A
ENST00000579546.1:c.139C>A
ENST00000583074.5:n.21C>A
ENST00000583850.5:n.77C>A
ENST00000583858.5:c.331C>A
ENST00000585203.6:n.510C>A
NM_000018.3:c.1302C>A	NP_000009.1:p.Ile434=
NM_001033859.2:c.1236C>A	NP_001029031.1:p.Ile412=
NM_001270447.1:c.1371C>A	NP_001257376.1:p.Ile457=
NM_001270448.1:c.1074C>A	NP_001257377.1:p.Ile358=
XM_006721516.2:c.1302C>A	XP_006721579.2:p.Ile434=
XM_011523829.1:c.1302C>A	XP_011522131.1:p.Ile434=
XM_011523830.1:c.1302C>A	XP_011522132.1:p.Ile434=
XR_934021.1:n.1409C>A
XR_934022.1:n.1409C>A
XR_934023.1:n.1409C>A
XM_006721516.3:c.1302C>A	XP_006721579.2:p.Ile434=
XM_011523829.2:c.1302C>A	XP_011522131.1:p.Ile434=
XM_011523830.2:c.1302C>A	XP_011522132.1:p.Ile434=
XM_024450741.1:c.1302C>A	XP_024306509.1:p.Ile434=
XR_934021.2:n.1361C>A
XR_934022.2:n.1361C>A
XR_934023.2:n.1361C>A
NM_000018.4:c.1302C>A MANE Select	NP_000009.1:p.Ile434=
NM_001033859.3:c.1236C>A	NP_001029031.1:p.Ile412=
NM_001270447.2:c.1371C>A	NP_001257376.1:p.Ile457=
NM_001270448.2:c.1074C>A	NP_001257377.1:p.Ile358=