Canonical Allele Identifier: CA3339476
Community Standard Title: NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90674228C>T , CM000667.2:g.90674228C>T GRCh38
NC_000005.9:g.89970045C>T , CM000667.1:g.89970045C>T GRCh37
NC_000005.8:g.90005801C>T NCBI36
NG_007083.1:g.120429C>T
NG_007083.2:g.149885C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.5104C>T MANE Select NP_115495.3:p.Pro1702Ser
ENST00000405460.9:c.5104C>T MANE Select ENSP00000384582.2:p.Pro1702Ser
NM_032119.3:c.5104C>T NP_115495.3:p.Pro1702Ser
NR_003149.1:n.5200C>T
NR_003149.2:n.5203C>T
ENST00000405460.6:c.5104C>T ENSP00000384582.2:p.Pro1702Ser
ENST00000450321.2:n.439C>T
ENST00000639473.1:n.563C>T
ENST00000639676.1:n.2702C>T
ENST00000640403.1:c.2395C>T ENSP00000492531.1:p.Pro799Ser
XM_011543675.1:c.5104C>T XP_011541977.1:p.Pro1702Ser
XM_011543676.1:c.5104C>T XP_011541978.1:p.Pro1702Ser
XM_011543677.1:c.2407C>T XP_011541979.1:p.Pro803Ser
XM_011543678.1:c.5104C>T XP_011541980.1:p.Pro1702Ser
XM_011543679.1:c.5104C>T XP_011541981.1:p.Pro1702Ser
XM_017009963.2:c.5104C>T XP_016865452.1:p.Pro1702Ser
XM_017009964.2:c.5104C>T XP_016865453.1:p.Pro1702Ser
XM_017009965.1:c.5101C>T XP_016865454.1:p.Pro1701Ser
XM_017009966.2:c.5104C>T XP_016865455.1:p.Pro1702Ser
XM_017009967.1:c.5008C>T XP_016865456.1:p.Pro1670Ser
XM_017009968.2:c.5104C>T XP_016865457.1:p.Pro1702Ser
XM_017009969.2:c.5104C>T XP_016865458.1:p.Pro1702Ser
XM_017009970.2:c.5104C>T XP_016865459.1:p.Pro1702Ser
XM_017009971.2:c.5104C>T XP_016865460.1:p.Pro1702Ser
XM_017009974.2:c.5104C>T XP_016865463.1:p.Pro1702Ser