Canonical Allele Identifier: CA497620671

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1642344
• ClinVar RCV Id: RCV003308016 ; RCV002153512
• dbSNP Id: rs1179669157
• gnomAD v2: 17-7126475-C-T
• gnomAD v3: 17-7223156-C-T
• gnomAD v4: 17-7223156-C-T
• MyVariant Identifiers: chr17:g.7126475C>T (hg19) ; chr17:g.7223156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223156C>T , CM000679.2:g.7223156C>T	GRCh38
NC_000017.10:g.7126475C>T , CM000679.1:g.7126475C>T	GRCh37
NC_000017.9:g.7067199C>T	NCBI36
NG_007975.1:g.8323C>T
NG_008391.2:g.1895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1101C>T MANE Select	ENSP00000349297.5:p.Thr367=
ENST00000322910.9:c.*1056C>T	ENSP00000325395.5:n.*1056C>T
ENST00000350303.9:c.1035C>T	ENSP00000344152.5:p.Thr345=
ENST00000356839.9:c.1101C>T	ENSP00000349297.5:p.Thr367=
ENST00000543245.6:c.1170C>T	ENSP00000438689.2:p.Thr390=
ENST00000578579.2:n.50C>T
ENST00000578824.5:n.517C>T
ENST00000579425.5:n.125C>T
ENST00000582379.1:n.752C>T
ENST00000583858.5:c.130C>T
ENST00000585203.6:n.309C>T
NM_000018.3:c.1101C>T	NP_000009.1:p.Thr367=
NM_001033859.2:c.1035C>T	NP_001029031.1:p.Thr345=
NM_001270447.1:c.1170C>T	NP_001257376.1:p.Thr390=
NM_001270448.1:c.873C>T	NP_001257377.1:p.Thr291=
XM_006721516.2:c.1101C>T	XP_006721579.2:p.Thr367=
XM_011523829.1:c.1101C>T	XP_011522131.1:p.Thr367=
XM_011523830.1:c.1101C>T	XP_011522132.1:p.Thr367=
XR_934021.1:n.1208C>T
XR_934022.1:n.1208C>T
XR_934023.1:n.1208C>T
XM_006721516.3:c.1101C>T	XP_006721579.2:p.Thr367=
XM_011523829.2:c.1101C>T	XP_011522131.1:p.Thr367=
XM_011523830.2:c.1101C>T	XP_011522132.1:p.Thr367=
XM_024450741.1:c.1101C>T	XP_024306509.1:p.Thr367=
XR_934021.2:n.1160C>T
XR_934022.2:n.1160C>T
XR_934023.2:n.1160C>T
NM_000018.4:c.1101C>T MANE Select	NP_000009.1:p.Thr367=
NM_001033859.3:c.1035C>T	NP_001029031.1:p.Thr345=
NM_001270447.2:c.1170C>T	NP_001257376.1:p.Thr390=
NM_001270448.2:c.873C>T	NP_001257377.1:p.Thr291=