Canonical Allele Identifier: CA445465919
Community Standard Title: NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653543T>C , CM000667.2:g.90653543T>C GRCh38
NC_000005.9:g.89949360T>C , CM000667.1:g.89949360T>C GRCh37
NC_000005.8:g.89985116T>C NCBI36
NG_007083.1:g.99744T>C
NG_007083.2:g.129200T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3969T>C MANE Select NP_115495.3:p.Ser1323=
ENST00000405460.9:c.3969T>C MANE Select ENSP00000384582.2:p.Ser1323=
NM_032119.3:c.3969T>C NP_115495.3:p.Ser1323=
NR_003149.1:n.4065T>C
NR_003149.2:n.4068T>C
ENST00000405460.6:c.3969T>C ENSP00000384582.2:p.Ser1323=
ENST00000504142.1:c.2734T>C
ENST00000504142.2:n.2735T>C
ENST00000639676.1:n.1567T>C
ENST00000640403.1:c.1260T>C ENSP00000492531.1:p.Ser420=
XM_011543675.1:c.3969T>C XP_011541977.1:p.Ser1323=
XM_011543676.1:c.3969T>C XP_011541978.1:p.Ser1323=
XM_011543677.1:c.1272T>C XP_011541979.1:p.Ser424=
XM_011543678.1:c.3969T>C XP_011541980.1:p.Ser1323=
XM_011543679.1:c.3969T>C XP_011541981.1:p.Ser1323=
XM_017009963.2:c.3969T>C XP_016865452.1:p.Ser1323=
XM_017009964.2:c.3969T>C XP_016865453.1:p.Ser1323=
XM_017009965.1:c.3966T>C XP_016865454.1:p.Ser1322=
XM_017009966.2:c.3969T>C XP_016865455.1:p.Ser1323=
XM_017009967.1:c.3873T>C XP_016865456.1:p.Ser1291=
XM_017009968.2:c.3969T>C XP_016865457.1:p.Ser1323=
XM_017009969.2:c.3969T>C XP_016865458.1:p.Ser1323=
XM_017009970.2:c.3969T>C XP_016865459.1:p.Ser1323=
XM_017009971.2:c.3969T>C XP_016865460.1:p.Ser1323=
XM_017009974.2:c.3969T>C XP_016865463.1:p.Ser1323=