Canonical Allele Identifier: CA497694410

Gene: ACADVL

Linked Data

• dbSNP Id: rs772124122
• gnomAD v3: 17-7224863-C-T
• gnomAD v4: 17-7224863-C-T
• MyVariant Identifiers: chr17:g.7128182C>T (hg19) ; chr17:g.7224863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224863C>T , CM000679.2:g.7224863C>T	GRCh38
NC_000017.10:g.7128182C>T , CM000679.1:g.7128182C>T	GRCh37
NC_000017.9:g.7068906C>T	NCBI36
NG_007975.1:g.10030C>T
NG_008391.2:g.188G>A
NG_033038.1:g.14682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1806C>T MANE Select	ENSP00000349297.5:p.Leu602=
ENST00000322910.9:c.*1761C>T	ENSP00000325395.5:n.*1761C>T
ENST00000350303.9:c.1740C>T	ENSP00000344152.5:p.Leu580=
ENST00000356839.9:c.1806C>T	ENSP00000349297.5:p.Leu602=
ENST00000542255.6:c.685C>T
ENST00000543245.6:c.1875C>T	ENSP00000438689.2:p.Leu625=
ENST00000578033.1:n.231C>T
ENST00000578319.5:n.387C>T
ENST00000578711.1:n.1359C>T
ENST00000578809.5:n.378C>T
ENST00000579425.5:n.922C>T
ENST00000579546.1:c.541C>T
ENST00000583848.5:c.172C>T	ENSP00000466487.1:n.172C>T
ENST00000583850.5:n.577C>T
ENST00000583858.5:c.737C>T
NM_000018.3:c.1806C>T	NP_000009.1:p.Leu602=
NM_001033859.2:c.1740C>T	NP_001029031.1:p.Leu580=
NM_001270447.1:c.1875C>T	NP_001257376.1:p.Leu625=
NM_001270448.1:c.1578C>T	NP_001257377.1:p.Leu526=
XM_006721516.2:c.1827C>T	XP_006721579.2:p.Leu609=
XM_011523829.1:c.1725C>T	XP_011522131.1:p.Leu575=
XM_011523830.1:c.1704C>T	XP_011522132.1:p.Leu568=
XR_934021.1:n.1909C>T
XR_934022.1:n.1815C>T
XR_934023.1:n.1836C>T
XM_006721516.3:c.1827C>T	XP_006721579.2:p.Leu609=
XM_011523829.2:c.1725C>T	XP_011522131.1:p.Leu575=
XM_011523830.2:c.1704C>T	XP_011522132.1:p.Leu568=
XM_024450741.1:c.1794C>T	XP_024306509.1:p.Leu598=
XR_934021.2:n.1861C>T
XR_934022.2:n.1767C>T
XR_934023.2:n.1788C>T
NM_000018.4:c.1806C>T MANE Select	NP_000009.1:p.Leu602=
NM_001033859.3:c.1740C>T	NP_001029031.1:p.Leu580=
NM_001270447.2:c.1875C>T	NP_001257376.1:p.Leu625=
NM_001270448.2:c.1578C>T	NP_001257377.1:p.Leu526=