Canonical Allele Identifier: CA360390696
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90644769-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90644769G>T , CM000667.2:g.90644769G>T GRCh38
NC_000005.9:g.89940586G>T , CM000667.1:g.89940586G>T GRCh37
NC_000005.8:g.89976342G>T NCBI36
NG_007083.1:g.90970G>T
NG_007083.2:g.120426G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.2798G>T MANE Select ENSP00000384582.2:p.Ser933Ile
ENST00000504142.2:n.1564G>T
ENST00000639676.1:n.396G>T
ENST00000640403.1:c.101G>T ENSP00000492531.1:p.Ser34Ile
ENST00000405460.6:c.2798G>T ENSP00000384582.2:p.Ser933Ile
ENST00000504142.1:c.1563G>T
NM_032119.3:c.2798G>T NP_115495.3:p.Ser933Ile
NR_003149.1:n.2894G>T
XM_011543675.1:c.2798G>T XP_011541977.1:p.Ser933Ile
XM_011543676.1:c.2798G>T XP_011541978.1:p.Ser933Ile
XM_011543677.1:c.101G>T XP_011541979.1:p.Ser34Ile
XM_011543678.1:c.2798G>T XP_011541980.1:p.Ser933Ile
XM_011543679.1:c.2798G>T XP_011541981.1:p.Ser933Ile
NM_032119.4:c.2798G>T MANE Select NP_115495.3:p.Ser933Ile
XM_017009963.2:c.2798G>T XP_016865452.1:p.Ser933Ile
XM_017009964.2:c.2798G>T XP_016865453.1:p.Ser933Ile
XM_017009965.1:c.2795G>T XP_016865454.1:p.Ser932Ile
XM_017009966.2:c.2798G>T XP_016865455.1:p.Ser933Ile
XM_017009967.1:c.2702G>T XP_016865456.1:p.Ser901Ile
XM_017009968.2:c.2798G>T XP_016865457.1:p.Ser933Ile
XM_017009969.2:c.2798G>T XP_016865458.1:p.Ser933Ile
XM_017009970.2:c.2798G>T XP_016865459.1:p.Ser933Ile
XM_017009971.2:c.2798G>T XP_016865460.1:p.Ser933Ile
XM_017009974.2:c.2798G>T XP_016865463.1:p.Ser933Ile
NR_003149.2:n.2897G>T