Canonical Allele Identifier: CA122842564
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs78751985
gnomAD v2: 5-90209848-T-C
gnomAD v3: 5-90914031-T-C
gnomAD v4: 5-90914031-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90914031T>C , CM000667.2:g.90914031T>C GRCh38
NC_000005.9:g.90209848T>C , CM000667.1:g.90209848T>C GRCh37
NC_000005.8:g.90245604T>C NCBI36
NG_007083.1:g.360232T>C
NG_007083.2:g.389688T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.17856+50174T>C MANE Select ENSP00000384582.2:n.17856+50174T>C
ENST00000425867.3:c.6810+50174T>C ENSP00000392618.3:n.6810+50174T>C
ENST00000638510.1:n.5123+50174T>C
ENST00000638990.1:c.1068+50174T>C
ENST00000639431.1:c.266-71313T>C ENSP00000491057.1:n.266-71313T>C
ENST00000640407.1:c.4305+50174T>C ENSP00000491425.1:n.4305+50174T>C
ENST00000640815.1:c.-61+14708T>C ENSP00000491767.1:n.-61+14708T>C
ENST00000405460.6:c.17856+50174T>C ENSP00000384582.2:n.17856+50174T>C
ENST00000425867.2:c.4839+50174T>C ENSP00000392618.2:n.4839+50174T>C
NM_032119.3:c.17856+50174T>C NP_115495.3:n.17856+50174T>C
NR_003149.1:n.17869+50174T>C
XM_011543675.1:c.17853+50174T>C XP_011541977.1:n.17853+50174T>C
XM_011543676.1:c.17775+50174T>C XP_011541978.1:n.17775+50174T>C
XM_011543677.1:c.15159+50174T>C XP_011541979.1:n.15159+50174T>C
NM_032119.4:c.17856+50174T>C MANE Select NP_115495.3:n.17856+50174T>C
XM_017009963.2:c.17877+50174T>C XP_016865452.1:n.17877+50174T>C
XM_017009964.2:c.17874+50174T>C XP_016865453.1:n.17874+50174T>C
XM_017009965.1:c.17874+50174T>C XP_016865454.1:n.17874+50174T>C
XM_017009966.2:c.17796+50174T>C XP_016865455.1:n.17796+50174T>C
XM_017009967.1:c.17781+50174T>C XP_016865456.1:n.17781+50174T>C
XM_017009968.2:c.17697+50174T>C XP_016865457.1:n.17697+50174T>C
XM_017009969.2:c.17877+50174T>C XP_016865458.1:n.17877+50174T>C
XM_017009972.1:c.10995+50174T>C XP_016865461.1:n.10995+50174T>C
XM_017009973.1:c.10974+50174T>C XP_016865462.1:n.10974+50174T>C
NR_003149.2:n.17872+50174T>C