Canonical Allele Identifier: CA397725751

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224693-C-T
• MyVariant Identifiers: chr17:g.7128012C>T (hg19) ; chr17:g.7224693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224693C>T , CM000679.2:g.7224693C>T	GRCh38
NC_000017.10:g.7128012C>T , CM000679.1:g.7128012C>T	GRCh37
NC_000017.9:g.7068736C>T	NCBI36
NG_007975.1:g.9860C>T
NG_008391.2:g.358G>A
NG_033038.1:g.14852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1730C>T MANE Select	ENSP00000349297.5:p.Ala577Val
ENST00000322910.9:c.*1685C>T	ENSP00000325395.5:n.*1685C>T
ENST00000350303.9:c.1664C>T	ENSP00000344152.5:p.Ala555Val
ENST00000356839.9:c.1730C>T	ENSP00000349297.5:p.Ala577Val
ENST00000542255.6:c.537-22C>T
ENST00000543245.6:c.1799C>T	ENSP00000438689.2:p.Ala600Val
ENST00000578033.1:n.61C>T
ENST00000578319.5:n.311C>T
ENST00000578711.1:n.1189C>T
ENST00000578809.5:n.302C>T
ENST00000579425.5:n.846C>T
ENST00000579546.1:c.465C>T
ENST00000583074.5:n.300-22C>T
ENST00000583848.5:c.96C>T	ENSP00000466487.1:p.Cys32=
ENST00000583850.5:n.501C>T
ENST00000583858.5:c.661C>T
ENST00000585203.6:n.921C>T
NM_000018.3:c.1730C>T	NP_000009.1:p.Ala577Val
NM_001033859.2:c.1664C>T	NP_001029031.1:p.Ala555Val
NM_001270447.1:c.1799C>T	NP_001257376.1:p.Ala600Val
NM_001270448.1:c.1502C>T	NP_001257377.1:p.Ala501Val
XM_006721516.2:c.1679-22C>T	XP_006721579.2:n.1679-22C>T
XM_011523829.1:c.1577-22C>T	XP_011522131.1:n.1577-22C>T
XM_011523830.1:c.1628C>T	XP_011522132.1:p.Ala543Val
XR_934021.1:n.1833C>T
XR_934022.1:n.1739C>T
XR_934023.1:n.1688-22C>T
XM_006721516.3:c.1679-22C>T	XP_006721579.2:n.1679-22C>T
XM_011523829.2:c.1577-22C>T	XP_011522131.1:n.1577-22C>T
XM_011523830.2:c.1628C>T	XP_011522132.1:p.Ala543Val
XM_024450741.1:c.1718C>T	XP_024306509.1:p.Ala573Val
XR_934021.2:n.1785C>T
XR_934022.2:n.1691C>T
XR_934023.2:n.1640-22C>T
NM_000018.4:c.1730C>T MANE Select	NP_000009.1:p.Ala577Val
NM_001033859.3:c.1664C>T	NP_001029031.1:p.Ala555Val
NM_001270447.2:c.1799C>T	NP_001257376.1:p.Ala600Val
NM_001270448.2:c.1502C>T	NP_001257377.1:p.Ala501Val