Canonical Allele Identifier: CA360410350
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs759662630
gnomAD v2: 5-90106717-G-C
gnomAD v4: 5-90810900-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810900G>C , CM000667.2:g.90810900G>C GRCh38
NC_000005.9:g.90106717G>C , CM000667.1:g.90106717G>C GRCh37
NC_000005.8:g.90142473G>C NCBI36
NG_007083.1:g.257101G>C
NG_007083.2:g.286557G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.15640G>C MANE Select ENSP00000384582.2:p.Val5214Leu
ENST00000425867.3:c.4594G>C ENSP00000392618.3:p.Val1532Leu
ENST00000638510.1:n.2907G>C
ENST00000639431.1:c.265+134691G>C ENSP00000491057.1:n.265+134691G>C
ENST00000640407.1:c.2050G>C ENSP00000491425.1:p.Val684Leu
ENST00000405460.6:c.15640G>C ENSP00000384582.2:p.Val5214Leu
ENST00000425867.2:c.2623G>C ENSP00000392618.2:p.Val875Leu
NM_032119.3:c.15640G>C NP_115495.3:p.Val5214Leu
NR_003149.1:n.15653G>C
XM_011543675.1:c.15637G>C XP_011541977.1:p.Val5213Leu
XM_011543676.1:c.15559G>C XP_011541978.1:p.Val5187Leu
XM_011543677.1:c.12943G>C XP_011541979.1:p.Val4315Leu
NM_032119.4:c.15640G>C MANE Select NP_115495.3:p.Val5214Leu
XM_017009963.2:c.15661G>C XP_016865452.1:p.Val5221Leu
XM_017009964.2:c.15658G>C XP_016865453.1:p.Val5220Leu
XM_017009965.1:c.15658G>C XP_016865454.1:p.Val5220Leu
XM_017009966.2:c.15580G>C XP_016865455.1:p.Val5194Leu
XM_017009967.1:c.15565G>C XP_016865456.1:p.Val5189Leu
XM_017009968.2:c.15481G>C XP_016865457.1:p.Val5161Leu
XM_017009969.2:c.15661G>C XP_016865458.1:p.Val5221Leu
XM_017009972.1:c.8779G>C XP_016865461.1:p.Val2927Leu
XM_017009973.1:c.8758G>C XP_016865462.1:p.Val2920Leu
NR_003149.2:n.15656G>C