Canonical Allele Identifier: CA3339429
Community Standard Title: NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90672673T>C , CM000667.2:g.90672673T>C GRCh38
NC_000005.9:g.89968490T>C , CM000667.1:g.89968490T>C GRCh37
NC_000005.8:g.90004246T>C NCBI36
NG_007083.1:g.118874T>C
NG_007083.2:g.148330T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4880T>C MANE Select NP_115495.3:p.Phe1627Ser
ENST00000405460.9:c.4880T>C MANE Select ENSP00000384582.2:p.Phe1627Ser
NM_032119.3:c.4880T>C NP_115495.3:p.Phe1627Ser
NR_003149.1:n.4976T>C
NR_003149.2:n.4979T>C
ENST00000405460.6:c.4880T>C ENSP00000384582.2:p.Phe1627Ser
ENST00000450321.2:n.120T>C
ENST00000639473.1:n.339T>C
ENST00000639676.1:n.2478T>C
ENST00000640403.1:c.2171T>C ENSP00000492531.1:p.Phe724Ser
XM_011543675.1:c.4880T>C XP_011541977.1:p.Phe1627Ser
XM_011543676.1:c.4880T>C XP_011541978.1:p.Phe1627Ser
XM_011543677.1:c.2183T>C XP_011541979.1:p.Phe728Ser
XM_011543678.1:c.4880T>C XP_011541980.1:p.Phe1627Ser
XM_011543679.1:c.4880T>C XP_011541981.1:p.Phe1627Ser
XM_017009963.2:c.4880T>C XP_016865452.1:p.Phe1627Ser
XM_017009964.2:c.4880T>C XP_016865453.1:p.Phe1627Ser
XM_017009965.1:c.4877T>C XP_016865454.1:p.Phe1626Ser
XM_017009966.2:c.4880T>C XP_016865455.1:p.Phe1627Ser
XM_017009967.1:c.4784T>C XP_016865456.1:p.Phe1595Ser
XM_017009968.2:c.4880T>C XP_016865457.1:p.Phe1627Ser
XM_017009969.2:c.4880T>C XP_016865458.1:p.Phe1627Ser
XM_017009970.2:c.4880T>C XP_016865459.1:p.Phe1627Ser
XM_017009971.2:c.4880T>C XP_016865460.1:p.Phe1627Ser
XM_017009974.2:c.4880T>C XP_016865463.1:p.Phe1627Ser