Canonical Allele Identifier: CA624860701

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474883
• ClinVar RCV Id: RCV000539799
• dbSNP Id: rs1228196483
• gnomAD v2: 17-7127280-G-T
• gnomAD v3: 17-7223961-G-T
• gnomAD v4: 17-7223961-G-T
• MyVariant Identifiers: chr17:g.7127280G>T (hg19) ; chr17:g.7223961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223961G>T , CM000679.2:g.7223961G>T	GRCh38
NC_000017.10:g.7127280G>T , CM000679.1:g.7127280G>T	GRCh37
NC_000017.9:g.7068004G>T	NCBI36
NG_007975.1:g.9128G>T
NG_008391.2:g.1090C>A
NG_033038.1:g.15584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-7G>T MANE Select	ENSP00000349297.5:n.1333-7G>T
ENST00000322910.9:c.*1288-7G>T	ENSP00000325395.5:n.*1288-7G>T
ENST00000350303.9:c.1267-7G>T	ENSP00000344152.5:n.1267-7G>T
ENST00000356839.9:c.1333-7G>T	ENSP00000349297.5:n.1333-7G>T
ENST00000542255.6:c.191-7G>T
ENST00000543245.6:c.1402-7G>T	ENSP00000438689.2:n.1402-7G>T
ENST00000578711.1:n.457G>T
ENST00000579425.5:n.442G>T
ENST00000579546.1:c.170-7G>T
ENST00000579894.5:n.37G>T
ENST00000583074.5:n.52-7G>T
ENST00000583850.5:n.108-7G>T
ENST00000583858.5:c.362-7G>T
ENST00000585203.6:n.524-7G>T
NM_000018.3:c.1333-7G>T	NP_000009.1:n.1333-7G>T
NM_001033859.2:c.1267-7G>T	NP_001029031.1:n.1267-7G>T
NM_001270447.1:c.1402-7G>T	NP_001257376.1:n.1402-7G>T
NM_001270448.1:c.1105-7G>T	NP_001257377.1:n.1105-7G>T
XM_006721516.2:c.1333-7G>T	XP_006721579.2:n.1333-7G>T
XM_011523829.1:c.1333-7G>T	XP_011522131.1:n.1333-7G>T
XM_011523830.1:c.1333-7G>T	XP_011522132.1:n.1333-7G>T
XR_934021.1:n.1440-7G>T
XR_934022.1:n.1440-7G>T
XR_934023.1:n.1440-7G>T
XM_006721516.3:c.1333-7G>T	XP_006721579.2:n.1333-7G>T
XM_011523829.2:c.1333-7G>T	XP_011522131.1:n.1333-7G>T
XM_011523830.2:c.1333-7G>T	XP_011522132.1:n.1333-7G>T
XM_024450741.1:c.1333-7G>T	XP_024306509.1:n.1333-7G>T
XR_934021.2:n.1392-7G>T
XR_934022.2:n.1392-7G>T
XR_934023.2:n.1392-7G>T
NM_000018.4:c.1333-7G>T MANE Select	NP_000009.1:n.1333-7G>T
NM_001033859.3:c.1267-7G>T	NP_001029031.1:n.1267-7G>T
NM_001270447.2:c.1402-7G>T	NP_001257376.1:n.1402-7G>T
NM_001270448.2:c.1105-7G>T	NP_001257377.1:n.1105-7G>T