Canonical Allele Identifier: CA273937

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1622
• ClinVar RCV Id: RCV000001689 ; RCV000210824
• dbSNP Id: rs113690956
• ExAC: 17:7126557 G / A
• gnomAD v2: 17-7126557-G-A
• gnomAD v3: 17-7223238-G-A
• gnomAD v4: 17-7223238-G-A
• MyVariant Identifiers: chr17:g.7126557G>A (hg19) ; chr17:g.7223238G>A (hg38)
• ERepo: CA273937/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223238G>A , CM000679.2:g.7223238G>A	GRCh38
NC_000017.10:g.7126557G>A , CM000679.1:g.7126557G>A	GRCh37
NC_000017.9:g.7067281G>A	NCBI36
NG_007975.1:g.8405G>A
NG_008391.2:g.1813C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1182+1G>A MANE Select	ENSP00000349297.5:n.1182+1G>A
ENST00000322910.9:c.*1137+1G>A	ENSP00000325395.5:n.*1137+1G>A
ENST00000350303.9:c.1116+1G>A	ENSP00000344152.5:n.1116+1G>A
ENST00000356839.9:c.1182+1G>A	ENSP00000349297.5:n.1182+1G>A
ENST00000542255.6:c.40+1G>A
ENST00000543245.6:c.1251+1G>A	ENSP00000438689.2:n.1251+1G>A
ENST00000578579.2:n.131+1G>A
ENST00000578824.5:n.598+1G>A
ENST00000579425.5:n.206+1G>A
ENST00000579546.1:c.19+1G>A
ENST00000583858.5:c.211+1G>A
ENST00000585203.6:n.390+1G>A
NM_000018.3:c.1182+1G>A	NP_000009.1:n.1182+1G>A
NM_001033859.2:c.1116+1G>A	NP_001029031.1:n.1116+1G>A
NM_001270447.1:c.1251+1G>A	NP_001257376.1:n.1251+1G>A
NM_001270448.1:c.954+1G>A	NP_001257377.1:n.954+1G>A
XM_006721516.2:c.1182+1G>A	XP_006721579.2:n.1182+1G>A
XM_011523829.1:c.1182+1G>A	XP_011522131.1:n.1182+1G>A
XM_011523830.1:c.1182+1G>A	XP_011522132.1:n.1182+1G>A
XR_934021.1:n.1289+1G>A
XR_934022.1:n.1289+1G>A
XR_934023.1:n.1289+1G>A
XM_006721516.3:c.1182+1G>A	XP_006721579.2:n.1182+1G>A
XM_011523829.2:c.1182+1G>A	XP_011522131.1:n.1182+1G>A
XM_011523830.2:c.1182+1G>A	XP_011522132.1:n.1182+1G>A
XM_024450741.1:c.1182+1G>A	XP_024306509.1:n.1182+1G>A
XR_934021.2:n.1241+1G>A
XR_934022.2:n.1241+1G>A
XR_934023.2:n.1241+1G>A
NM_000018.4:c.1182+1G>A MANE Select	NP_000009.1:n.1182+1G>A
NM_001033859.3:c.1116+1G>A	NP_001029031.1:n.1116+1G>A
NM_001270447.2:c.1251+1G>A	NP_001257376.1:n.1251+1G>A
NM_001270448.2:c.954+1G>A	NP_001257377.1:n.954+1G>A