Canonical Allele Identifier: CA3339554
Community Standard Title: NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90676145T>C , CM000667.2:g.90676145T>C GRCh38
NC_000005.9:g.89971962T>C , CM000667.1:g.89971962T>C GRCh37
NC_000005.8:g.90007718T>C NCBI36
NG_007083.1:g.122346T>C
NG_007083.2:g.151802T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.5379T>C MANE Select NP_115495.3:p.Thr1793=
ENST00000405460.9:c.5379T>C MANE Select ENSP00000384582.2:p.Thr1793=
NM_032119.3:c.5379T>C NP_115495.3:p.Thr1793=
NR_003149.1:n.5475T>C
NR_003149.2:n.5478T>C
ENST00000405460.6:c.5379T>C ENSP00000384582.2:p.Thr1793=
ENST00000450321.2:n.714T>C
ENST00000639431.1:c.201T>C ENSP00000491057.1:p.Thr67=
ENST00000639473.1:n.838T>C
ENST00000640403.1:c.2670T>C ENSP00000492531.1:p.Thr890=
ENST00000640779.1:c.194T>C
XM_011543675.1:c.5379T>C XP_011541977.1:p.Thr1793=
XM_011543676.1:c.5379T>C XP_011541978.1:p.Thr1793=
XM_011543677.1:c.2682T>C XP_011541979.1:p.Thr894=
XM_011543678.1:c.5379T>C XP_011541980.1:p.Thr1793=
XM_011543679.1:c.5379T>C XP_011541981.1:p.Thr1793=
XM_017009963.2:c.5379T>C XP_016865452.1:p.Thr1793=
XM_017009964.2:c.5379T>C XP_016865453.1:p.Thr1793=
XM_017009965.1:c.5376T>C XP_016865454.1:p.Thr1792=
XM_017009966.2:c.5379T>C XP_016865455.1:p.Thr1793=
XM_017009967.1:c.5283T>C XP_016865456.1:p.Thr1761=
XM_017009968.2:c.5379T>C XP_016865457.1:p.Thr1793=
XM_017009969.2:c.5379T>C XP_016865458.1:p.Thr1793=
XM_017009970.2:c.5379T>C XP_016865459.1:p.Thr1793=
XM_017009971.2:c.5379T>C XP_016865460.1:p.Thr1793=
XM_017009973.1:c.-1418T>C XP_016865462.1:n.-1418T>C
XM_017009974.2:c.5379T>C XP_016865463.1:p.Thr1793=