Canonical Allele Identifier: CA497693779

Gene: ACADVL

Linked Data

• dbSNP Id: rs1442957624
• gnomAD v2: 17-7124949-G-A
• gnomAD v4: 17-7221630-G-A
• MyVariant Identifiers: chr17:g.7124949G>A (hg19) ; chr17:g.7221630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221630G>A , CM000679.2:g.7221630G>A	GRCh38
NC_000017.10:g.7124949G>A , CM000679.1:g.7124949G>A	GRCh37
NC_000017.9:g.7065673G>A	NCBI36
NG_007975.1:g.6797G>A
NG_008391.2:g.3421C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.570G>A MANE Select	ENSP00000349297.5:p.Leu190=
ENST00000322910.9:c.*525G>A	ENSP00000325395.5:n.*525G>A
ENST00000350303.9:c.504G>A	ENSP00000344152.5:p.Leu168=
ENST00000356839.9:c.570G>A	ENSP00000349297.5:p.Leu190=
ENST00000543245.6:c.639G>A	ENSP00000438689.2:p.Leu213=
ENST00000577191.5:n.647G>A
ENST00000577433.5:n.778G>A
ENST00000577857.5:n.386G>A
ENST00000579286.5:n.751G>A
ENST00000579886.2:c.408G>A	ENSP00000463246.1:p.Leu136=
ENST00000580365.1:n.301G>A
ENST00000581378.5:c.288G>A
ENST00000581562.5:n.525-322G>A
ENST00000583312.5:c.570G>A	ENSP00000467920.1:p.Leu190=
ENST00000583760.1:n.352G>A
NM_000018.3:c.570G>A	NP_000009.1:p.Leu190=
NM_001033859.2:c.504G>A	NP_001029031.1:p.Leu168=
NM_001270447.1:c.639G>A	NP_001257376.1:p.Leu213=
NM_001270448.1:c.342G>A	NP_001257377.1:p.Leu114=
XM_006721516.2:c.570G>A	XP_006721579.2:p.Leu190=
XM_011523829.1:c.570G>A	XP_011522131.1:p.Leu190=
XM_011523830.1:c.570G>A	XP_011522132.1:p.Leu190=
XR_934021.1:n.677G>A
XR_934022.1:n.677G>A
XR_934023.1:n.677G>A
XM_006721516.3:c.570G>A	XP_006721579.2:p.Leu190=
XM_011523829.2:c.570G>A	XP_011522131.1:p.Leu190=
XM_011523830.2:c.570G>A	XP_011522132.1:p.Leu190=
XM_024450741.1:c.570G>A	XP_024306509.1:p.Leu190=
XR_934021.2:n.629G>A
XR_934022.2:n.629G>A
XR_934023.2:n.629G>A
NM_000018.4:c.570G>A MANE Select	NP_000009.1:p.Leu190=
NM_001033859.3:c.504G>A	NP_001029031.1:p.Leu168=
NM_001270447.2:c.639G>A	NP_001257376.1:p.Leu213=
NM_001270448.2:c.342G>A	NP_001257377.1:p.Leu114=