Canonical Allele Identifier: CA3341411

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90779063T>C , CM000667.2:g.90779063T>C	GRCh38
NC_000005.9:g.90074880T>C , CM000667.1:g.90074880T>C	GRCh37
NC_000005.8:g.90110636T>C	NCBI36
NG_007083.1:g.225264T>C
NG_007083.2:g.254720T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.13048T>C MANE Select	NP_115495.3:p.Ser4350Pro
ENST00000405460.9:c.13048T>C MANE Select	ENSP00000384582.2:p.Ser4350Pro
NM_032119.3:c.13048T>C	NP_115495.3:p.Ser4350Pro
NR_003149.1:n.13061T>C
NR_003149.2:n.13064T>C
ENST00000405460.6:c.13048T>C	ENSP00000384582.2:p.Ser4350Pro
ENST00000425867.3:c.2002T>C	ENSP00000392618.3:p.Ser668Pro
ENST00000639431.1:c.265+102854T>C	ENSP00000491057.1:n.265+102854T>C
ENST00000640464.1:n.3467T>C
XM_011543675.1:c.13045T>C	XP_011541977.1:p.Ser4349Pro
XM_011543676.1:c.12967T>C	XP_011541978.1:p.Ser4323Pro
XM_011543677.1:c.10351T>C	XP_011541979.1:p.Ser3451Pro
XM_011543678.1:c.13048T>C	XP_011541980.1:p.Ser4350Pro
XM_017009963.2:c.13069T>C	XP_016865452.1:p.Ser4357Pro
XM_017009964.2:c.13066T>C	XP_016865453.1:p.Ser4356Pro
XM_017009965.1:c.13066T>C	XP_016865454.1:p.Ser4356Pro
XM_017009966.2:c.12988T>C	XP_016865455.1:p.Ser4330Pro
XM_017009967.1:c.12973T>C	XP_016865456.1:p.Ser4325Pro
XM_017009968.2:c.13069T>C	XP_016865457.1:p.Ser4357Pro
XM_017009969.2:c.13069T>C	XP_016865458.1:p.Ser4357Pro
XM_017009970.2:c.13069T>C	XP_016865459.1:p.Ser4357Pro
XM_017009971.2:c.13069T>C	XP_016865460.1:p.Ser4357Pro
XM_017009972.1:c.6187T>C	XP_016865461.1:p.Ser2063Pro
XM_017009973.1:c.6166T>C	XP_016865462.1:p.Ser2056Pro