Canonical Allele Identifier: CA397723222

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124968C>A (hg19) ; chr17:g.7221649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221649C>A , CM000679.2:g.7221649C>A	GRCh38
NC_000017.10:g.7124968C>A , CM000679.1:g.7124968C>A	GRCh37
NC_000017.9:g.7065692C>A	NCBI36
NG_007975.1:g.6816C>A
NG_008391.2:g.3402G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.589C>A MANE Select	ENSP00000349297.5:p.Gln197Lys
ENST00000322910.9:c.*544C>A	ENSP00000325395.5:n.*544C>A
ENST00000350303.9:c.523C>A	ENSP00000344152.5:p.Gln175Lys
ENST00000356839.9:c.589C>A	ENSP00000349297.5:p.Gln197Lys
ENST00000543245.6:c.658C>A	ENSP00000438689.2:p.Gln220Lys
ENST00000577191.5:n.666C>A
ENST00000577433.5:n.797C>A
ENST00000577857.5:n.405C>A
ENST00000579286.5:n.770C>A
ENST00000579886.2:c.427C>A	ENSP00000463246.1:p.Gln143Lys
ENST00000580365.1:n.320C>A
ENST00000581378.5:c.307C>A
ENST00000581562.5:n.525-303C>A
ENST00000583312.5:c.589C>A	ENSP00000467920.1:p.Gln197Lys
ENST00000583760.1:n.371C>A
NM_000018.3:c.589C>A	NP_000009.1:p.Gln197Lys
NM_001033859.2:c.523C>A	NP_001029031.1:p.Gln175Lys
NM_001270447.1:c.658C>A	NP_001257376.1:p.Gln220Lys
NM_001270448.1:c.361C>A	NP_001257377.1:p.Gln121Lys
XM_006721516.2:c.589C>A	XP_006721579.2:p.Gln197Lys
XM_011523829.1:c.589C>A	XP_011522131.1:p.Gln197Lys
XM_011523830.1:c.589C>A	XP_011522132.1:p.Gln197Lys
XR_934021.1:n.696C>A
XR_934022.1:n.696C>A
XR_934023.1:n.696C>A
XM_006721516.3:c.589C>A	XP_006721579.2:p.Gln197Lys
XM_011523829.2:c.589C>A	XP_011522131.1:p.Gln197Lys
XM_011523830.2:c.589C>A	XP_011522132.1:p.Gln197Lys
XM_024450741.1:c.589C>A	XP_024306509.1:p.Gln197Lys
XR_934021.2:n.648C>A
XR_934022.2:n.648C>A
XR_934023.2:n.648C>A
NM_000018.4:c.589C>A MANE Select	NP_000009.1:p.Gln197Lys
NM_001033859.3:c.523C>A	NP_001029031.1:p.Gln175Lys
NM_001270447.2:c.658C>A	NP_001257376.1:p.Gln220Lys
NM_001270448.2:c.361C>A	NP_001257377.1:p.Gln121Lys