Canonical Allele Identifier: CA8337739

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 808214
• ClinVar RCV Id: RCV000996472 ; RCV001398811
• dbSNP Id: rs371910495
• ExAC: 17:7124859 C / T
• gnomAD v2: 17-7124859-C-T
• gnomAD v3: 17-7221540-C-T
• gnomAD v4: 17-7221540-C-T
• MyVariant Identifiers: chr17:g.7124859C>T (hg19) ; chr17:g.7221540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221540C>T , CM000679.2:g.7221540C>T	GRCh38
NC_000017.10:g.7124859C>T , CM000679.1:g.7124859C>T	GRCh37
NC_000017.9:g.7065583C>T	NCBI36
NG_007975.1:g.6707C>T
NG_008391.2:g.3511G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.480C>T MANE Select	ENSP00000349297.5:p.Tyr160=
ENST00000322910.9:c.*435C>T	ENSP00000325395.5:n.*435C>T
ENST00000350303.9:c.414C>T	ENSP00000344152.5:p.Tyr138=
ENST00000356839.9:c.480C>T	ENSP00000349297.5:p.Tyr160=
ENST00000543245.6:c.549C>T	ENSP00000438689.2:p.Tyr183=
ENST00000577191.5:n.557C>T
ENST00000577433.5:n.688C>T
ENST00000577857.5:n.296C>T
ENST00000579286.5:n.661C>T
ENST00000579886.2:c.318C>T	ENSP00000463246.1:p.Tyr106=
ENST00000580365.1:n.211C>T
ENST00000581378.5:c.198C>T
ENST00000581562.5:n.525-412C>T
ENST00000582166.1:n.461C>T
ENST00000583312.5:c.480C>T	ENSP00000467920.1:p.Tyr160=
ENST00000583760.1:n.262C>T
NM_000018.3:c.480C>T	NP_000009.1:p.Tyr160=
NM_001033859.2:c.414C>T	NP_001029031.1:p.Tyr138=
NM_001270447.1:c.549C>T	NP_001257376.1:p.Tyr183=
NM_001270448.1:c.252C>T	NP_001257377.1:p.Tyr84=
XM_006721516.2:c.480C>T	XP_006721579.2:p.Tyr160=
XM_011523829.1:c.480C>T	XP_011522131.1:p.Tyr160=
XM_011523830.1:c.480C>T	XP_011522132.1:p.Tyr160=
XR_934021.1:n.587C>T
XR_934022.1:n.587C>T
XR_934023.1:n.587C>T
XM_006721516.3:c.480C>T	XP_006721579.2:p.Tyr160=
XM_011523829.2:c.480C>T	XP_011522131.1:p.Tyr160=
XM_011523830.2:c.480C>T	XP_011522132.1:p.Tyr160=
XM_024450741.1:c.480C>T	XP_024306509.1:p.Tyr160=
XR_934021.2:n.539C>T
XR_934022.2:n.539C>T
XR_934023.2:n.539C>T
NM_000018.4:c.480C>T MANE Select	NP_000009.1:p.Tyr160=
NM_001033859.3:c.414C>T	NP_001029031.1:p.Tyr138=
NM_001270447.2:c.549C>T	NP_001257376.1:p.Tyr183=
NM_001270448.2:c.252C>T	NP_001257377.1:p.Tyr84=