Canonical Allele Identifier: CA397725649

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224644-G-T
• MyVariant Identifiers: chr17:g.7127963G>T (hg19) ; chr17:g.7224644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224644G>T , CM000679.2:g.7224644G>T	GRCh38
NC_000017.10:g.7127963G>T , CM000679.1:g.7127963G>T	GRCh37
NC_000017.9:g.7068687G>T	NCBI36
NG_007975.1:g.9811G>T
NG_008391.2:g.407C>A
NG_033038.1:g.14901C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1681G>T MANE Select	ENSP00000349297.5:p.Glu561Ter
ENST00000322910.9:c.*1636G>T	ENSP00000325395.5:n.*1636G>T
ENST00000350303.9:c.1615G>T	ENSP00000344152.5:p.Glu539Ter
ENST00000356839.9:c.1681G>T	ENSP00000349297.5:p.Glu561Ter
ENST00000542255.6:c.537-71G>T
ENST00000543245.6:c.1750G>T	ENSP00000438689.2:p.Glu584Ter
ENST00000578033.1:n.12G>T
ENST00000578319.5:n.262G>T
ENST00000578711.1:n.1140G>T
ENST00000578809.5:n.253G>T
ENST00000579425.5:n.797G>T
ENST00000579546.1:c.416G>T
ENST00000582450.1:n.278G>T
ENST00000583074.5:n.300-71G>T
ENST00000583848.5:c.65-18G>T	ENSP00000466487.1:n.65-18G>T
ENST00000583850.5:n.452G>T
ENST00000583858.5:c.612G>T
ENST00000585203.6:n.872G>T
NM_000018.3:c.1681G>T	NP_000009.1:p.Glu561Ter
NM_001033859.2:c.1615G>T	NP_001029031.1:p.Glu539Ter
NM_001270447.1:c.1750G>T	NP_001257376.1:p.Glu584Ter
NM_001270448.1:c.1453G>T	NP_001257377.1:p.Glu485Ter
XM_006721516.2:c.1679-71G>T	XP_006721579.2:n.1679-71G>T
XM_011523829.1:c.1577-71G>T	XP_011522131.1:n.1577-71G>T
XM_011523830.1:c.1579G>T	XP_011522132.1:p.Glu527Ter
XR_934021.1:n.1784G>T
XR_934022.1:n.1690G>T
XR_934023.1:n.1688-71G>T
XM_006721516.3:c.1679-71G>T	XP_006721579.2:n.1679-71G>T
XM_011523829.2:c.1577-71G>T	XP_011522131.1:n.1577-71G>T
XM_011523830.2:c.1579G>T	XP_011522132.1:p.Glu527Ter
XM_024450741.1:c.1669G>T	XP_024306509.1:p.Glu557Ter
XR_934021.2:n.1736G>T
XR_934022.2:n.1642G>T
XR_934023.2:n.1640-71G>T
NM_000018.4:c.1681G>T MANE Select	NP_000009.1:p.Glu561Ter
NM_001033859.3:c.1615G>T	NP_001029031.1:p.Glu539Ter
NM_001270447.2:c.1750G>T	NP_001257376.1:p.Glu584Ter
NM_001270448.2:c.1453G>T	NP_001257377.1:p.Glu485Ter