Canonical Allele Identifier: CA397723053

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 858025
• ClinVar RCV Id: RCV001063820
• dbSNP Id: rs1382262076
• gnomAD v2: 17-7124885-T-C
• gnomAD v4: 17-7221566-T-C
• MyVariant Identifiers: chr17:g.7124885T>C (hg19) ; chr17:g.7221566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221566T>C , CM000679.2:g.7221566T>C	GRCh38
NC_000017.10:g.7124885T>C , CM000679.1:g.7124885T>C	GRCh37
NC_000017.9:g.7065609T>C	NCBI36
NG_007975.1:g.6733T>C
NG_008391.2:g.3485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.506T>C MANE Select	ENSP00000349297.5:p.Met169Thr
ENST00000322910.9:c.*461T>C	ENSP00000325395.5:n.*461T>C
ENST00000350303.9:c.440T>C	ENSP00000344152.5:p.Met147Thr
ENST00000356839.9:c.506T>C	ENSP00000349297.5:p.Met169Thr
ENST00000543245.6:c.575T>C	ENSP00000438689.2:p.Met192Thr
ENST00000577191.5:n.583T>C
ENST00000577433.5:n.714T>C
ENST00000577857.5:n.322T>C
ENST00000579286.5:n.687T>C
ENST00000579886.2:c.344T>C	ENSP00000463246.1:p.Met115Thr
ENST00000580365.1:n.237T>C
ENST00000581378.5:c.224T>C
ENST00000581562.5:n.525-386T>C
ENST00000582166.1:n.487T>C
ENST00000583312.5:c.506T>C	ENSP00000467920.1:p.Met169Thr
ENST00000583760.1:n.288T>C
NM_000018.3:c.506T>C	NP_000009.1:p.Met169Thr
NM_001033859.2:c.440T>C	NP_001029031.1:p.Met147Thr
NM_001270447.1:c.575T>C	NP_001257376.1:p.Met192Thr
NM_001270448.1:c.278T>C	NP_001257377.1:p.Met93Thr
XM_006721516.2:c.506T>C	XP_006721579.2:p.Met169Thr
XM_011523829.1:c.506T>C	XP_011522131.1:p.Met169Thr
XM_011523830.1:c.506T>C	XP_011522132.1:p.Met169Thr
XR_934021.1:n.613T>C
XR_934022.1:n.613T>C
XR_934023.1:n.613T>C
XM_006721516.3:c.506T>C	XP_006721579.2:p.Met169Thr
XM_011523829.2:c.506T>C	XP_011522131.1:p.Met169Thr
XM_011523830.2:c.506T>C	XP_011522132.1:p.Met169Thr
XM_024450741.1:c.506T>C	XP_024306509.1:p.Met169Thr
XR_934021.2:n.565T>C
XR_934022.2:n.565T>C
XR_934023.2:n.565T>C
NM_000018.4:c.506T>C MANE Select	NP_000009.1:p.Met169Thr
NM_001033859.3:c.440T>C	NP_001029031.1:p.Met147Thr
NM_001270447.2:c.575T>C	NP_001257376.1:p.Met192Thr
NM_001270448.2:c.278T>C	NP_001257377.1:p.Met93Thr