Canonical Allele Identifier: CA3341593
Community Standard Title: NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788135C>T , CM000667.2:g.90788135C>T GRCh38
NC_000005.9:g.90083952C>T , CM000667.1:g.90083952C>T GRCh37
NC_000005.8:g.90119708C>T NCBI36
NG_007083.1:g.234336C>T
NG_007083.2:g.263792C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13718C>T MANE Select NP_115495.3:p.Ala4573Val
ENST00000405460.9:c.13718C>T MANE Select ENSP00000384582.2:p.Ala4573Val
NM_032119.3:c.13718C>T NP_115495.3:p.Ala4573Val
NR_003149.1:n.13731C>T
NR_003149.2:n.13734C>T
ENST00000405460.6:c.13718C>T ENSP00000384582.2:p.Ala4573Val
ENST00000425867.2:c.701C>T ENSP00000392618.2:p.Ala234Val
ENST00000425867.3:c.2672C>T ENSP00000392618.3:p.Ala891Val
ENST00000638510.1:n.985C>T
ENST00000638975.1:c.347C>T ENSP00000492630.1:p.Ala116Val
ENST00000639431.1:c.265+111926C>T ENSP00000491057.1:n.265+111926C>T
ENST00000640407.1:c.128C>T ENSP00000491425.1:p.Ala43Val
XM_011543675.1:c.13715C>T XP_011541977.1:p.Ala4572Val
XM_011543676.1:c.13637C>T XP_011541978.1:p.Ala4546Val
XM_011543677.1:c.11021C>T XP_011541979.1:p.Ala3674Val
XM_011543678.1:c.13718C>T XP_011541980.1:p.Ala4573Val
XM_017009963.2:c.13739C>T XP_016865452.1:p.Ala4580Val
XM_017009964.2:c.13736C>T XP_016865453.1:p.Ala4579Val
XM_017009965.1:c.13736C>T XP_016865454.1:p.Ala4579Val
XM_017009966.2:c.13658C>T XP_016865455.1:p.Ala4553Val
XM_017009967.1:c.13643C>T XP_016865456.1:p.Ala4548Val
XM_017009968.2:c.13739C>T XP_016865457.1:p.Ala4580Val
XM_017009969.2:c.13739C>T XP_016865458.1:p.Ala4580Val
XM_017009970.2:c.13739C>T XP_016865459.1:p.Ala4580Val
XM_017009971.2:c.13739C>T XP_016865460.1:p.Ala4580Val
XM_017009972.1:c.6857C>T XP_016865461.1:p.Ala2286Val
XM_017009973.1:c.6836C>T XP_016865462.1:p.Ala2279Val