Canonical Allele Identifier: CA360406558

Gene: ADGRV1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90807650G>C , CM000667.2:g.90807650G>C	GRCh38
NC_000005.9:g.90103467G>C , CM000667.1:g.90103467G>C	GRCh37
NC_000005.8:g.90139223G>C	NCBI36
NG_007083.1:g.253851G>C
NG_007083.2:g.283307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14885G>C MANE Select	ENSP00000384582.2:p.Trp4962Ser
ENST00000425867.3:c.3839G>C	ENSP00000392618.3:p.Trp1280Ser
ENST00000638510.1:n.2152G>C
ENST00000638585.1:n.428-2583G>C
ENST00000639431.1:c.265+131441G>C	ENSP00000491057.1:n.265+131441G>C
ENST00000640407.1:c.1295G>C	ENSP00000491425.1:p.Trp432Ser
ENST00000405460.6:c.14885G>C	ENSP00000384582.2:p.Trp4962Ser
ENST00000425867.2:c.1868G>C	ENSP00000392618.2:p.Trp623Ser
ENST00000513828.1:n.581G>C
NM_032119.3:c.14885G>C	NP_115495.3:p.Trp4962Ser
NR_003149.1:n.14898G>C
XM_011543675.1:c.14882G>C	XP_011541977.1:p.Trp4961Ser
XM_011543676.1:c.14804G>C	XP_011541978.1:p.Trp4935Ser
XM_011543677.1:c.12188G>C	XP_011541979.1:p.Trp4063Ser
XM_011543678.1:c.14885G>C	XP_011541980.1:p.Trp4962Ser
NM_032119.4:c.14885G>C MANE Select	NP_115495.3:p.Trp4962Ser
XM_017009963.2:c.14906G>C	XP_016865452.1:p.Trp4969Ser
XM_017009964.2:c.14903G>C	XP_016865453.1:p.Trp4968Ser
XM_017009965.1:c.14903G>C	XP_016865454.1:p.Trp4968Ser
XM_017009966.2:c.14825G>C	XP_016865455.1:p.Trp4942Ser
XM_017009967.1:c.14810G>C	XP_016865456.1:p.Trp4937Ser
XM_017009968.2:c.14731G>C	XP_016865457.1:p.Gly4911Arg
XM_017009969.2:c.14906G>C	XP_016865458.1:p.Trp4969Ser
XM_017009970.2:c.14906G>C	XP_016865459.1:p.Trp4969Ser
XM_017009971.2:c.14731G>C	XP_016865460.1:p.Gly4911Arg
XM_017009972.1:c.8024G>C	XP_016865461.1:p.Trp2675Ser
XM_017009973.1:c.8003G>C	XP_016865462.1:p.Trp2668Ser
NR_003149.2:n.14901G>C