Canonical Allele Identifier: CA360409144

Gene: ADGRV1

Linked Data

• dbSNP Id: rs774741141
• MyVariant Identifiers: chr5:g.90041496T>C (hg19) ; chr5:g.90745679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745679T>C , CM000667.2:g.90745679T>C	GRCh38
NC_000005.9:g.90041496T>C , CM000667.1:g.90041496T>C	GRCh37
NC_000005.8:g.90077252T>C	NCBI36
NG_007083.1:g.191880T>C
NG_007083.2:g.221336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10858T>C MANE Select	ENSP00000384582.2:p.Ser3620Pro
ENST00000639431.1:c.265+69470T>C	ENSP00000491057.1:n.265+69470T>C
ENST00000640374.1:n.4002T>C
ENST00000640464.1:n.1277T>C
ENST00000405460.6:c.10858T>C	ENSP00000384582.2:p.Ser3620Pro
ENST00000509621.1:c.3555T>C
NM_032119.3:c.10858T>C	NP_115495.3:p.Ser3620Pro
NR_003149.1:n.10871T>C
XM_011543675.1:c.10855T>C	XP_011541977.1:p.Ser3619Pro
XM_011543676.1:c.10777T>C	XP_011541978.1:p.Ser3593Pro
XM_011543677.1:c.8161T>C	XP_011541979.1:p.Ser2721Pro
XM_011543678.1:c.10858T>C	XP_011541980.1:p.Ser3620Pro
XM_011543679.1:c.*80T>C	XP_011541981.1:n.*80T>C
NM_032119.4:c.10858T>C MANE Select	NP_115495.3:p.Ser3620Pro
XM_017009963.2:c.10879T>C	XP_016865452.1:p.Ser3627Pro
XM_017009964.2:c.10876T>C	XP_016865453.1:p.Ser3626Pro
XM_017009965.1:c.10876T>C	XP_016865454.1:p.Ser3626Pro
XM_017009966.2:c.10798T>C	XP_016865455.1:p.Ser3600Pro
XM_017009967.1:c.10783T>C	XP_016865456.1:p.Ser3595Pro
XM_017009968.2:c.10879T>C	XP_016865457.1:p.Ser3627Pro
XM_017009969.2:c.10879T>C	XP_016865458.1:p.Ser3627Pro
XM_017009970.2:c.10879T>C	XP_016865459.1:p.Ser3627Pro
XM_017009971.2:c.10879T>C	XP_016865460.1:p.Ser3627Pro
XM_017009972.1:c.3997T>C	XP_016865461.1:p.Ser1333Pro
XM_017009973.1:c.3976T>C	XP_016865462.1:p.Ser1326Pro
XM_017009974.2:c.*80T>C	XP_016865463.1:n.*80T>C
NR_003149.2:n.10874T>C