Canonical Allele Identifier: CA138040
Community Standard Title: NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90628828C>T , CM000667.2:g.90628828C>T GRCh38
NC_000005.9:g.89924645C>T , CM000667.1:g.89924645C>T GRCh37
NC_000005.8:g.89960401C>T NCBI36
NG_007083.1:g.75029C>T
NG_007083.2:g.104485C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.1505C>T MANE Select NP_115495.3:p.Ala502Val
ENST00000405460.9:c.1505C>T MANE Select ENSP00000384582.2:p.Ala502Val
NM_032119.3:c.1505C>T NP_115495.3:p.Ala502Val
NR_003149.1:n.1601C>T
NR_003149.2:n.1604C>T
ENST00000405460.6:c.1505C>T ENSP00000384582.2:p.Ala502Val
ENST00000504142.1:c.270C>T
ENST00000504142.2:n.271C>T
ENST00000640083.1:n.1210C>T
ENST00000640109.1:n.1601C>T
XM_011543675.1:c.1505C>T XP_011541977.1:p.Ala502Val
XM_011543676.1:c.1505C>T XP_011541978.1:p.Ala502Val
XM_011543678.1:c.1505C>T XP_011541980.1:p.Ala502Val
XM_011543679.1:c.1505C>T XP_011541981.1:p.Ala502Val
XM_017009963.2:c.1505C>T XP_016865452.1:p.Ala502Val
XM_017009964.2:c.1505C>T XP_016865453.1:p.Ala502Val
XM_017009965.1:c.1502C>T XP_016865454.1:p.Ala501Val
XM_017009966.2:c.1505C>T XP_016865455.1:p.Ala502Val
XM_017009967.1:c.1409C>T XP_016865456.1:p.Ala470Val
XM_017009968.2:c.1505C>T XP_016865457.1:p.Ala502Val
XM_017009969.2:c.1505C>T XP_016865458.1:p.Ala502Val
XM_017009970.2:c.1505C>T XP_016865459.1:p.Ala502Val
XM_017009971.2:c.1505C>T XP_016865460.1:p.Ala502Val
XM_017009974.2:c.1505C>T XP_016865463.1:p.Ala502Val