Canonical Allele Identifier: CA287435431

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1444795
• ClinVar RCV Id: RCV001992443
• dbSNP Id: rs892944229
• gnomAD v2: 17-7124342-A-T
• gnomAD v3: 17-7221023-A-T
• gnomAD v4: 17-7221023-A-T
• MyVariant Identifiers: chr17:g.7124342A>T (hg19) ; chr17:g.7221023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221023A>T , CM000679.2:g.7221023A>T	GRCh38
NC_000017.10:g.7124342A>T , CM000679.1:g.7124342A>T	GRCh37
NC_000017.9:g.7065066A>T	NCBI36
NG_007975.1:g.6190A>T
NG_008391.2:g.4028T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.442A>T MANE Select	ENSP00000349297.5:p.Ser148Cys
ENST00000322910.9:c.*397A>T	ENSP00000325395.5:n.*397A>T
ENST00000350303.9:c.376A>T	ENSP00000344152.5:p.Ser126Cys
ENST00000356839.9:c.442A>T	ENSP00000349297.5:p.Ser148Cys
ENST00000543245.6:c.511A>T	ENSP00000438689.2:p.Ser171Cys
ENST00000577191.5:n.519A>T
ENST00000577433.5:n.650A>T
ENST00000577857.5:n.293+193A>T
ENST00000579286.5:n.623A>T
ENST00000579886.2:c.280A>T	ENSP00000463246.1:p.Ser94Cys
ENST00000580365.1:n.173A>T
ENST00000581378.5:c.141A>T
ENST00000581562.5:n.489A>T
ENST00000582056.5:n.625A>T
ENST00000582166.1:n.423A>T
ENST00000583312.5:c.442A>T	ENSP00000467920.1:p.Ser148Cys
NM_000018.3:c.442A>T	NP_000009.1:p.Ser148Cys
NM_001033859.2:c.376A>T	NP_001029031.1:p.Ser126Cys
NM_001270447.1:c.511A>T	NP_001257376.1:p.Ser171Cys
NM_001270448.1:c.214A>T	NP_001257377.1:p.Ser72Cys
XM_006721516.2:c.442A>T	XP_006721579.2:p.Ser148Cys
XM_011523829.1:c.442A>T	XP_011522131.1:p.Ser148Cys
XM_011523830.1:c.442A>T	XP_011522132.1:p.Ser148Cys
XR_934021.1:n.549A>T
XR_934022.1:n.549A>T
XR_934023.1:n.549A>T
XM_006721516.3:c.442A>T	XP_006721579.2:p.Ser148Cys
XM_011523829.2:c.442A>T	XP_011522131.1:p.Ser148Cys
XM_011523830.2:c.442A>T	XP_011522132.1:p.Ser148Cys
XM_024450741.1:c.442A>T	XP_024306509.1:p.Ser148Cys
XR_934021.2:n.501A>T
XR_934022.2:n.501A>T
XR_934023.2:n.501A>T
NM_000018.4:c.442A>T MANE Select	NP_000009.1:p.Ser148Cys
NM_001033859.3:c.376A>T	NP_001029031.1:p.Ser126Cys
NM_001270447.2:c.511A>T	NP_001257376.1:p.Ser171Cys
NM_001270448.2:c.214A>T	NP_001257377.1:p.Ser72Cys