Canonical Allele Identifier: CA497619706

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1972528
• ClinVar RCV Id: RCV002750333
• gnomAD v4: 17-7221564-C-T
• COSMIC: COSM5364142
• MyVariant Identifiers: chr17:g.7124883C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221564C>T , CM000679.2:g.7221564C>T	GRCh38
NC_000017.10:g.7124883C>T , CM000679.1:g.7124883C>T	GRCh37
NC_000017.9:g.7065607C>T	NCBI36
NG_007975.1:g.6731C>T
NG_008391.2:g.3487G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.504C>T MANE Select	ENSP00000349297.5:p.Gly168=
ENST00000322910.9:c.*459C>T	ENSP00000325395.5:n.*459C>T
ENST00000350303.9:c.438C>T	ENSP00000344152.5:p.Gly146=
ENST00000356839.9:c.504C>T	ENSP00000349297.5:p.Gly168=
ENST00000543245.6:c.573C>T	ENSP00000438689.2:p.Gly191=
ENST00000577191.5:n.581C>T
ENST00000577433.5:n.712C>T
ENST00000577857.5:n.320C>T
ENST00000579286.5:n.685C>T
ENST00000579886.2:c.342C>T	ENSP00000463246.1:p.Gly114=
ENST00000580365.1:n.235C>T
ENST00000581378.5:c.222C>T
ENST00000581562.5:n.525-388C>T
ENST00000582166.1:n.485C>T
ENST00000583312.5:c.504C>T	ENSP00000467920.1:p.Gly168=
ENST00000583760.1:n.286C>T
NM_000018.3:c.504C>T	NP_000009.1:p.Gly168=
NM_001033859.2:c.438C>T	NP_001029031.1:p.Gly146=
NM_001270447.1:c.573C>T	NP_001257376.1:p.Gly191=
NM_001270448.1:c.276C>T	NP_001257377.1:p.Gly92=
XM_006721516.2:c.504C>T	XP_006721579.2:p.Gly168=
XM_011523829.1:c.504C>T	XP_011522131.1:p.Gly168=
XM_011523830.1:c.504C>T	XP_011522132.1:p.Gly168=
XR_934021.1:n.611C>T
XR_934022.1:n.611C>T
XR_934023.1:n.611C>T
XM_006721516.3:c.504C>T	XP_006721579.2:p.Gly168=
XM_011523829.2:c.504C>T	XP_011522131.1:p.Gly168=
XM_011523830.2:c.504C>T	XP_011522132.1:p.Gly168=
XM_024450741.1:c.504C>T	XP_024306509.1:p.Gly168=
XR_934021.2:n.563C>T
XR_934022.2:n.563C>T
XR_934023.2:n.563C>T
NM_000018.4:c.504C>T MANE Select	NP_000009.1:p.Gly168=
NM_001033859.3:c.438C>T	NP_001029031.1:p.Gly146=
NM_001270447.2:c.573C>T	NP_001257376.1:p.Gly191=
NM_001270448.2:c.276C>T	NP_001257377.1:p.Gly92=