Canonical Allele Identifier: CA3342029
Community Standard Title: NM_032119.4(ADGRV1):c.16061C>T (p.Ala5354Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90811321C>T , CM000667.2:g.90811321C>T GRCh38
NC_000005.9:g.90107138C>T , CM000667.1:g.90107138C>T GRCh37
NC_000005.8:g.90142894C>T NCBI36
NG_007083.1:g.257522C>T
NG_007083.2:g.286978C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16061C>T MANE Select NP_115495.3:p.Ala5354Val
ENST00000405460.9:c.16061C>T MANE Select ENSP00000384582.2:p.Ala5354Val
NM_032119.3:c.16061C>T NP_115495.3:p.Ala5354Val
NR_003149.1:n.16074C>T
NR_003149.2:n.16077C>T
ENST00000405460.6:c.16061C>T ENSP00000384582.2:p.Ala5354Val
ENST00000425867.2:c.3044C>T ENSP00000392618.2:p.Ala1015Val
ENST00000425867.3:c.5015C>T ENSP00000392618.3:p.Ala1672Val
ENST00000638510.1:n.3328C>T
ENST00000639431.1:c.265+135112C>T ENSP00000491057.1:n.265+135112C>T
ENST00000640407.1:c.2471C>T ENSP00000491425.1:p.Ala824Val
XM_011543675.1:c.16058C>T XP_011541977.1:p.Ala5353Val
XM_011543676.1:c.15980C>T XP_011541978.1:p.Ala5327Val
XM_011543677.1:c.13364C>T XP_011541979.1:p.Ala4455Val
XM_017009963.2:c.16082C>T XP_016865452.1:p.Ala5361Val
XM_017009964.2:c.16079C>T XP_016865453.1:p.Ala5360Val
XM_017009965.1:c.16079C>T XP_016865454.1:p.Ala5360Val
XM_017009966.2:c.16001C>T XP_016865455.1:p.Ala5334Val
XM_017009967.1:c.15986C>T XP_016865456.1:p.Ala5329Val
XM_017009968.2:c.15902C>T XP_016865457.1:p.Ala5301Val
XM_017009969.2:c.16082C>T XP_016865458.1:p.Ala5361Val
XM_017009972.1:c.9200C>T XP_016865461.1:p.Ala3067Val
XM_017009973.1:c.9179C>T XP_016865462.1:p.Ala3060Val