Canonical Allele Identifier: CA360370919

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988459G>C (hg19) ; chr5:g.90692642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692642G>C , CM000667.2:g.90692642G>C	GRCh38
NC_000005.9:g.89988459G>C , CM000667.1:g.89988459G>C	GRCh37
NC_000005.8:g.90024215G>C	NCBI36
NG_007083.1:g.138843G>C
NG_007083.2:g.168299G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6989G>C MANE Select	ENSP00000384582.2:p.Gly2330Ala
ENST00000639431.1:c.265+16433G>C	ENSP00000491057.1:n.265+16433G>C
ENST00000639473.1:n.2448G>C
ENST00000640012.1:c.796G>C
ENST00000640374.1:n.133G>C
ENST00000640403.1:c.4280G>C	ENSP00000492531.1:p.Gly1427Ala
ENST00000640779.1:c.1718G>C
ENST00000405460.6:c.6989G>C	ENSP00000384582.2:p.Gly2330Ala
NM_032119.3:c.6989G>C	NP_115495.3:p.Gly2330Ala
NR_003149.1:n.7002G>C
XM_011543675.1:c.6986G>C	XP_011541977.1:p.Gly2329Ala
XM_011543676.1:c.6908G>C	XP_011541978.1:p.Gly2303Ala
XM_011543677.1:c.4292G>C	XP_011541979.1:p.Gly1431Ala
XM_011543678.1:c.6989G>C	XP_011541980.1:p.Gly2330Ala
XM_011543679.1:c.6989G>C	XP_011541981.1:p.Gly2330Ala
NM_032119.4:c.6989G>C MANE Select	NP_115495.3:p.Gly2330Ala
XM_017009963.2:c.6989G>C	XP_016865452.1:p.Gly2330Ala
XM_017009964.2:c.6986G>C	XP_016865453.1:p.Gly2329Ala
XM_017009965.1:c.6986G>C	XP_016865454.1:p.Gly2329Ala
XM_017009966.2:c.6908G>C	XP_016865455.1:p.Gly2303Ala
XM_017009967.1:c.6893G>C	XP_016865456.1:p.Gly2298Ala
XM_017009968.2:c.6989G>C	XP_016865457.1:p.Gly2330Ala
XM_017009969.2:c.6989G>C	XP_016865458.1:p.Gly2330Ala
XM_017009970.2:c.6989G>C	XP_016865459.1:p.Gly2330Ala
XM_017009971.2:c.6989G>C	XP_016865460.1:p.Gly2330Ala
XM_017009972.1:c.107G>C	XP_016865461.1:p.Gly36Ala
XM_017009973.1:c.107G>C	XP_016865462.1:p.Gly36Ala
XM_017009974.2:c.6989G>C	XP_016865463.1:p.Gly2330Ala
NR_003149.2:n.7005G>C