Canonical Allele Identifier: CA3342173
Community Standard Title: NM_032119.4(ADGRV1):c.16537G>T (p.Ala5513Ser)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90829112G>T , CM000667.2:g.90829112G>T GRCh38
NC_000005.9:g.90124929G>T , CM000667.1:g.90124929G>T GRCh37
NC_000005.8:g.90160685G>T NCBI36
NG_007083.1:g.275313G>T
NG_007083.2:g.304769G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16537G>T MANE Select NP_115495.3:p.Ala5513Ser
ENST00000405460.9:c.16537G>T MANE Select ENSP00000384582.2:p.Ala5513Ser
NM_032119.3:c.16537G>T NP_115495.3:p.Ala5513Ser
NR_003149.1:n.16550G>T
NR_003149.2:n.16553G>T
ENST00000405460.6:c.16537G>T ENSP00000384582.2:p.Ala5513Ser
ENST00000425867.2:c.3520G>T ENSP00000392618.2:p.Ala1174Ser
ENST00000425867.3:c.5491G>T ENSP00000392618.3:p.Ala1831Ser
ENST00000638510.1:n.3804G>T
ENST00000639431.1:c.265+152903G>T ENSP00000491057.1:n.265+152903G>T
ENST00000640061.1:n.128+6930G>T
ENST00000640407.1:c.2986G>T ENSP00000491425.1:n.2986G>T
XM_011543675.1:c.16534G>T XP_011541977.1:p.Ala5512Ser
XM_011543676.1:c.16456G>T XP_011541978.1:p.Ala5486Ser
XM_011543677.1:c.13840G>T XP_011541979.1:p.Ala4614Ser
XM_017009963.2:c.16558G>T XP_016865452.1:p.Ala5520Ser
XM_017009964.2:c.16555G>T XP_016865453.1:p.Ala5519Ser
XM_017009965.1:c.16555G>T XP_016865454.1:p.Ala5519Ser
XM_017009966.2:c.16477G>T XP_016865455.1:p.Ala5493Ser
XM_017009967.1:c.16462G>T XP_016865456.1:p.Ala5488Ser
XM_017009968.2:c.16378G>T XP_016865457.1:p.Ala5460Ser
XM_017009969.2:c.16558G>T XP_016865458.1:p.Ala5520Ser
XM_017009972.1:c.9676G>T XP_016865461.1:p.Ala3226Ser
XM_017009973.1:c.9655G>T XP_016865462.1:p.Ala3219Ser