Canonical Allele Identifier: CA397726015

Gene: ACADVL

Linked Data

• dbSNP Id: rs148584617
• gnomAD v2: 17-7128292-G-T
• gnomAD v4: 17-7224973-G-T
• MyVariant Identifiers: chr17:g.7128292G>T (hg19) ; chr17:g.7224973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224973G>T , CM000679.2:g.7224973G>T	GRCh38
NC_000017.10:g.7128292G>T , CM000679.1:g.7128292G>T	GRCh37
NC_000017.9:g.7069016G>T	NCBI36
NG_007975.1:g.10140G>T
NG_008391.2:g.78C>A
NG_033038.1:g.14572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1844G>T MANE Select	ENSP00000349297.5:p.Arg615Leu
ENST00000322910.9:c.*1799G>T	ENSP00000325395.5:n.*1799G>T
ENST00000350303.9:c.1778G>T	ENSP00000344152.5:p.Arg593Leu
ENST00000356839.9:c.1844G>T	ENSP00000349297.5:p.Arg615Leu
ENST00000542255.6:c.723G>T
ENST00000543245.6:c.1913G>T	ENSP00000438689.2:p.Arg638Leu
ENST00000578033.1:n.269G>T
ENST00000578319.5:n.425G>T
ENST00000578711.1:n.1469G>T
ENST00000578809.5:n.416G>T
ENST00000579425.5:n.960G>T
ENST00000579546.1:c.579G>T
ENST00000583848.5:c.210G>T	ENSP00000466487.1:n.210G>T
ENST00000583850.5:n.615G>T
ENST00000583858.5:c.775G>T
NM_000018.3:c.1844G>T	NP_000009.1:p.Arg615Leu
NM_001033859.2:c.1778G>T	NP_001029031.1:p.Arg593Leu
NM_001270447.1:c.1913G>T	NP_001257376.1:p.Arg638Leu
NM_001270448.1:c.1616G>T	NP_001257377.1:p.Arg539Leu
XM_006721516.2:c.1865G>T	XP_006721579.2:p.Arg622Leu
XM_011523829.1:c.1763G>T	XP_011522131.1:p.Arg588Leu
XM_011523830.1:c.1742G>T	XP_011522132.1:p.Arg581Leu
XR_934021.1:n.1947G>T
XR_934022.1:n.1853G>T
XR_934023.1:n.1874G>T
XM_006721516.3:c.1865G>T	XP_006721579.2:p.Arg622Leu
XM_011523829.2:c.1763G>T	XP_011522131.1:p.Arg588Leu
XM_011523830.2:c.1742G>T	XP_011522132.1:p.Arg581Leu
XM_024450741.1:c.1832G>T	XP_024306509.1:p.Arg611Leu
XR_934021.2:n.1899G>T
XR_934022.2:n.1805G>T
XR_934023.2:n.1826G>T
NM_000018.4:c.1844G>T MANE Select	NP_000009.1:p.Arg615Leu
NM_001033859.3:c.1778G>T	NP_001029031.1:p.Arg593Leu
NM_001270447.2:c.1913G>T	NP_001257376.1:p.Arg638Leu
NM_001270448.2:c.1616G>T	NP_001257377.1:p.Arg539Leu