Canonical Allele Identifier: CA397725769

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128020G>T (hg19) ; chr17:g.7224701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224701G>T , CM000679.2:g.7224701G>T	GRCh38
NC_000017.10:g.7128020G>T , CM000679.1:g.7128020G>T	GRCh37
NC_000017.9:g.7068744G>T	NCBI36
NG_007975.1:g.9868G>T
NG_008391.2:g.350C>A
NG_033038.1:g.14844C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1738G>T MANE Select	ENSP00000349297.5:p.Val580Leu
ENST00000322910.9:c.*1693G>T	ENSP00000325395.5:n.*1693G>T
ENST00000350303.9:c.1672G>T	ENSP00000344152.5:p.Val558Leu
ENST00000356839.9:c.1738G>T	ENSP00000349297.5:p.Val580Leu
ENST00000542255.6:c.537-14G>T
ENST00000543245.6:c.1807G>T	ENSP00000438689.2:p.Val603Leu
ENST00000578033.1:n.69G>T
ENST00000578319.5:n.319G>T
ENST00000578711.1:n.1197G>T
ENST00000578809.5:n.310G>T
ENST00000579425.5:n.854G>T
ENST00000579546.1:c.473G>T
ENST00000583074.5:n.300-14G>T
ENST00000583848.5:c.104G>T	ENSP00000466487.1:p.Gly35Val
ENST00000583850.5:n.509G>T
ENST00000583858.5:c.669G>T
ENST00000585203.6:n.929G>T
NM_000018.3:c.1738G>T	NP_000009.1:p.Val580Leu
NM_001033859.2:c.1672G>T	NP_001029031.1:p.Val558Leu
NM_001270447.1:c.1807G>T	NP_001257376.1:p.Val603Leu
NM_001270448.1:c.1510G>T	NP_001257377.1:p.Val504Leu
XM_006721516.2:c.1679-14G>T	XP_006721579.2:n.1679-14G>T
XM_011523829.1:c.1577-14G>T	XP_011522131.1:n.1577-14G>T
XM_011523830.1:c.1636G>T	XP_011522132.1:p.Val546Leu
XR_934021.1:n.1841G>T
XR_934022.1:n.1747G>T
XR_934023.1:n.1688-14G>T
XM_006721516.3:c.1679-14G>T	XP_006721579.2:n.1679-14G>T
XM_011523829.2:c.1577-14G>T	XP_011522131.1:n.1577-14G>T
XM_011523830.2:c.1636G>T	XP_011522132.1:p.Val546Leu
XM_024450741.1:c.1726G>T	XP_024306509.1:p.Val576Leu
XR_934021.2:n.1793G>T
XR_934022.2:n.1699G>T
XR_934023.2:n.1640-14G>T
NM_000018.4:c.1738G>T MANE Select	NP_000009.1:p.Val580Leu
NM_001033859.3:c.1672G>T	NP_001029031.1:p.Val558Leu
NM_001270447.2:c.1807G>T	NP_001257376.1:p.Val603Leu
NM_001270448.2:c.1510G>T	NP_001257377.1:p.Val504Leu