Canonical Allele Identifier: CA8337777
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs771962317
ExAC: 17:7125043 G / A
gnomAD v2: 17-7125043-G-A
gnomAD v4: 17-7221724-G-A
MyVariant Identifiers: chr17:g.7125043G>A (hg19) chr17:g.7221724G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221724G>A , CM000679.2:g.7221724G>A GRCh38
NC_000017.10:g.7125043G>A , CM000679.1:g.7125043G>A GRCh37
NC_000017.9:g.7065767G>A NCBI36
NG_007975.1:g.6891G>A
NG_008391.2:g.3327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622+42G>A MANE Select ENSP00000349297.5:n.622+42G>A
ENST00000322910.9:c.*577+42G>A ENSP00000325395.5:n.*577+42G>A
ENST00000350303.9:c.556+42G>A ENSP00000344152.5:n.556+42G>A
ENST00000356839.9:c.622+42G>A ENSP00000349297.5:n.622+42G>A
ENST00000543245.6:c.691+42G>A ENSP00000438689.2:n.691+42G>A
ENST00000577191.5:n.699+42G>A
ENST00000577857.5:n.438+42G>A
ENST00000579286.5:n.803+42G>A
ENST00000579886.2:c.460+42G>A ENSP00000463246.1:n.460+42G>A
ENST00000580365.1:n.353+42G>A
ENST00000581378.5:c.340+42G>A
ENST00000581562.5:n.525-228G>A
ENST00000583312.5:c.622+42G>A ENSP00000467920.1:n.622+42G>A
ENST00000583760.1:n.404+42G>A
NM_000018.3:c.622+42G>A NP_000009.1:n.622+42G>A
NM_001033859.2:c.556+42G>A NP_001029031.1:n.556+42G>A
NM_001270447.1:c.691+42G>A NP_001257376.1:n.691+42G>A
NM_001270448.1:c.394+42G>A NP_001257377.1:n.394+42G>A
XM_006721516.2:c.622+42G>A XP_006721579.2:n.622+42G>A
XM_011523829.1:c.622+42G>A XP_011522131.1:n.622+42G>A
XM_011523830.1:c.622+42G>A XP_011522132.1:n.622+42G>A
XR_934021.1:n.729+42G>A
XR_934022.1:n.729+42G>A
XR_934023.1:n.729+42G>A
XM_006721516.3:c.622+42G>A XP_006721579.2:n.622+42G>A
XM_011523829.2:c.622+42G>A XP_011522131.1:n.622+42G>A
XM_011523830.2:c.622+42G>A XP_011522132.1:n.622+42G>A
XM_024450741.1:c.622+42G>A XP_024306509.1:n.622+42G>A
XR_934021.2:n.681+42G>A
XR_934022.2:n.681+42G>A
XR_934023.2:n.681+42G>A
NM_000018.4:c.622+42G>A MANE Select NP_000009.1:n.622+42G>A
NM_001033859.3:c.556+42G>A NP_001029031.1:n.556+42G>A
NM_001270447.2:c.691+42G>A NP_001257376.1:n.691+42G>A
NM_001270448.2:c.394+42G>A NP_001257377.1:n.394+42G>A
Search 100 bp 5'
Search 100 bp 3'