Canonical Allele Identifier: CA3341320
Community Standard Title: NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90778457A>C , CM000667.2:g.90778457A>C GRCh38
NC_000005.9:g.90074274A>C , CM000667.1:g.90074274A>C GRCh37
NC_000005.8:g.90110030A>C NCBI36
NG_007083.1:g.224658A>C
NG_007083.2:g.254114A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12697A>C MANE Select NP_115495.3:p.Ser4233Arg
ENST00000405460.9:c.12697A>C MANE Select ENSP00000384582.2:p.Ser4233Arg
NM_032119.3:c.12697A>C NP_115495.3:p.Ser4233Arg
NR_003149.1:n.12710A>C
NR_003149.2:n.12713A>C
ENST00000405460.6:c.12697A>C ENSP00000384582.2:p.Ser4233Arg
ENST00000425867.3:c.1651A>C ENSP00000392618.3:p.Ser551Arg
ENST00000639431.1:c.265+102248A>C ENSP00000491057.1:n.265+102248A>C
ENST00000640464.1:n.3116A>C
ENST00000640729.1:n.1274A>C
XM_011543675.1:c.12694A>C XP_011541977.1:p.Ser4232Arg
XM_011543676.1:c.12616A>C XP_011541978.1:p.Ser4206Arg
XM_011543677.1:c.10000A>C XP_011541979.1:p.Ser3334Arg
XM_011543678.1:c.12697A>C XP_011541980.1:p.Ser4233Arg
XM_017009963.2:c.12718A>C XP_016865452.1:p.Ser4240Arg
XM_017009964.2:c.12715A>C XP_016865453.1:p.Ser4239Arg
XM_017009965.1:c.12715A>C XP_016865454.1:p.Ser4239Arg
XM_017009966.2:c.12637A>C XP_016865455.1:p.Ser4213Arg
XM_017009967.1:c.12622A>C XP_016865456.1:p.Ser4208Arg
XM_017009968.2:c.12718A>C XP_016865457.1:p.Ser4240Arg
XM_017009969.2:c.12718A>C XP_016865458.1:p.Ser4240Arg
XM_017009970.2:c.12718A>C XP_016865459.1:p.Ser4240Arg
XM_017009971.2:c.12718A>C XP_016865460.1:p.Ser4240Arg
XM_017009972.1:c.5836A>C XP_016865461.1:p.Ser1946Arg
XM_017009973.1:c.5815A>C XP_016865462.1:p.Ser1939Arg