Canonical Allele Identifier: CA245786
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197554
dbSNP Id: rs764987437

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90724855G>A , CM000667.2:g.90724855G>A GRCh38
NC_000005.9:g.90020672G>A , CM000667.1:g.90020672G>A GRCh37
NC_000005.8:g.90056428G>A NCBI36
NG_007083.1:g.171056G>A
NG_007083.2:g.200512G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.9772G>A MANE Select ENSP00000384582.2:p.Val3258Ile
ENST00000639431.1:n.265+48646G>A ENSP00000491057.1:p.=
ENST00000640374.1:n.2916G>A
ENST00000640464.1:n.191G>A
ENST00000640779.1:n.4501G>A
ENST00000405460.6:c.9772G>A ENSP00000384582.2:p.Val3258Ile
ENST00000509621.1:n.2469G>A
NM_032119.3:c.9772G>A NP_115495.3:p.Val3258Ile
NR_003149.1:n.9785G>A
XM_011543675.1:c.9769G>A XP_011541977.1:p.Val3257Ile
XM_011543676.1:c.9691G>A XP_011541978.1:p.Val3231Ile
XM_011543677.1:c.7075G>A XP_011541979.1:p.Val2359Ile
XM_011543678.1:c.9772G>A XP_011541980.1:p.Val3258Ile
XM_011543679.1:c.9772G>A XP_011541981.1:p.Val3258Ile
XR_948560.1:n.272-9046C>T
NM_032119.4:c.9772G>A MANE Select NP_115495.3:p.Val3258Ile
XM_017009963.2:c.9793G>A XP_016865452.1:p.Val3265Ile
XM_017009964.2:c.9790G>A XP_016865453.1:p.Val3264Ile
XM_017009965.1:c.9790G>A XP_016865454.1:p.Val3264Ile
XM_017009966.2:c.9712G>A XP_016865455.1:p.Val3238Ile
XM_017009967.1:c.9697G>A XP_016865456.1:p.Val3233Ile
XM_017009968.2:c.9793G>A XP_016865457.1:p.Val3265Ile
XM_017009969.2:c.9793G>A XP_016865458.1:p.Val3265Ile
XM_017009970.2:c.9793G>A XP_016865459.1:p.Val3265Ile
XM_017009971.2:c.9793G>A XP_016865460.1:p.Val3265Ile
XM_017009972.1:c.2911G>A XP_016865461.1:p.Val971Ile
XM_017009973.1:c.2890G>A XP_016865462.1:p.Val964Ile
XM_017009974.2:c.9793G>A XP_016865463.1:p.Val3265Ile
XR_001742802.1:n.2523-9046C>T
NR_003149.2:n.9788G>A