Canonical Allele Identifier: CA445416123
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90745684-C-T
MyVariant Identifiers: chr5:g.90041501C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90745684C>T , CM000667.2:g.90745684C>T GRCh38
NC_000005.9:g.90041501C>T , CM000667.1:g.90041501C>T GRCh37
NC_000005.8:g.90077257C>T NCBI36
NG_007083.1:g.191885C>T
NG_007083.2:g.221341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.10863C>T MANE Select ENSP00000384582.2:p.Phe3621=
ENST00000639431.1:c.265+69475C>T ENSP00000491057.1:n.265+69475C>T
ENST00000640374.1:n.4007C>T
ENST00000640464.1:n.1282C>T
ENST00000405460.6:c.10863C>T ENSP00000384582.2:p.Phe3621=
ENST00000509621.1:c.3560C>T
NM_032119.3:c.10863C>T NP_115495.3:p.Phe3621=
NR_003149.1:n.10876C>T
XM_011543675.1:c.10860C>T XP_011541977.1:p.Phe3620=
XM_011543676.1:c.10782C>T XP_011541978.1:p.Phe3594=
XM_011543677.1:c.8166C>T XP_011541979.1:p.Phe2722=
XM_011543678.1:c.10863C>T XP_011541980.1:p.Phe3621=
XM_011543679.1:c.*85C>T XP_011541981.1:n.*85C>T
NM_032119.4:c.10863C>T MANE Select NP_115495.3:p.Phe3621=
XM_017009963.2:c.10884C>T XP_016865452.1:p.Phe3628=
XM_017009964.2:c.10881C>T XP_016865453.1:p.Phe3627=
XM_017009965.1:c.10881C>T XP_016865454.1:p.Phe3627=
XM_017009966.2:c.10803C>T XP_016865455.1:p.Phe3601=
XM_017009967.1:c.10788C>T XP_016865456.1:p.Phe3596=
XM_017009968.2:c.10884C>T XP_016865457.1:p.Phe3628=
XM_017009969.2:c.10884C>T XP_016865458.1:p.Phe3628=
XM_017009970.2:c.10884C>T XP_016865459.1:p.Phe3628=
XM_017009971.2:c.10884C>T XP_016865460.1:p.Phe3628=
XM_017009972.1:c.4002C>T XP_016865461.1:p.Phe1334=
XM_017009973.1:c.3981C>T XP_016865462.1:p.Phe1327=
XM_017009974.2:c.*85C>T XP_016865463.1:n.*85C>T
NR_003149.2:n.10879C>T