Canonical Allele Identifier: CA360409195
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1754545733
gnomAD v3: 5-90745692-A-T
gnomAD v4: 5-90745692-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90745692A>T , CM000667.2:g.90745692A>T GRCh38
NC_000005.9:g.90041509A>T , CM000667.1:g.90041509A>T GRCh37
NC_000005.8:g.90077265A>T NCBI36
NG_007083.1:g.191893A>T
NG_007083.2:g.221349A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.10871A>T MANE Select ENSP00000384582.2:p.Gln3624Leu
ENST00000425867.3:c.2A>T ENSP00000392618.3:p.Gln1Leu
ENST00000639431.1:c.265+69483A>T ENSP00000491057.1:n.265+69483A>T
ENST00000640374.1:n.4015A>T
ENST00000640464.1:n.1290A>T
ENST00000405460.6:c.10871A>T ENSP00000384582.2:p.Gln3624Leu
ENST00000509621.1:c.3568A>T
NM_032119.3:c.10871A>T NP_115495.3:p.Gln3624Leu
NR_003149.1:n.10884A>T
XM_011543675.1:c.10868A>T XP_011541977.1:p.Gln3623Leu
XM_011543676.1:c.10790A>T XP_011541978.1:p.Gln3597Leu
XM_011543677.1:c.8174A>T XP_011541979.1:p.Gln2725Leu
XM_011543678.1:c.10871A>T XP_011541980.1:p.Gln3624Leu
NM_032119.4:c.10871A>T MANE Select NP_115495.3:p.Gln3624Leu
XM_017009963.2:c.10892A>T XP_016865452.1:p.Gln3631Leu
XM_017009964.2:c.10889A>T XP_016865453.1:p.Gln3630Leu
XM_017009965.1:c.10889A>T XP_016865454.1:p.Gln3630Leu
XM_017009966.2:c.10811A>T XP_016865455.1:p.Gln3604Leu
XM_017009967.1:c.10796A>T XP_016865456.1:p.Gln3599Leu
XM_017009968.2:c.10892A>T XP_016865457.1:p.Gln3631Leu
XM_017009969.2:c.10892A>T XP_016865458.1:p.Gln3631Leu
XM_017009970.2:c.10892A>T XP_016865459.1:p.Gln3631Leu
XM_017009971.2:c.10892A>T XP_016865460.1:p.Gln3631Leu
XM_017009972.1:c.4010A>T XP_016865461.1:p.Gln1337Leu
XM_017009973.1:c.3989A>T XP_016865462.1:p.Gln1330Leu
NR_003149.2:n.10887A>T