Canonical Allele Identifier: CA445416118

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1166569734
• gnomAD v2: 5-90041498-C-T
• MyVariant Identifiers: chr5:g.90041498C>T (hg19) ; chr5:g.90745681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745681C>T , CM000667.2:g.90745681C>T	GRCh38
NC_000005.9:g.90041498C>T , CM000667.1:g.90041498C>T	GRCh37
NC_000005.8:g.90077254C>T	NCBI36
NG_007083.1:g.191882C>T
NG_007083.2:g.221338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10860C>T MANE Select	ENSP00000384582.2:p.Ser3620=
ENST00000639431.1:c.265+69472C>T	ENSP00000491057.1:n.265+69472C>T
ENST00000640374.1:n.4004C>T
ENST00000640464.1:n.1279C>T
ENST00000405460.6:c.10860C>T	ENSP00000384582.2:p.Ser3620=
ENST00000509621.1:c.3557C>T
NM_032119.3:c.10860C>T	NP_115495.3:p.Ser3620=
NR_003149.1:n.10873C>T
XM_011543675.1:c.10857C>T	XP_011541977.1:p.Ser3619=
XM_011543676.1:c.10779C>T	XP_011541978.1:p.Ser3593=
XM_011543677.1:c.8163C>T	XP_011541979.1:p.Ser2721=
XM_011543678.1:c.10860C>T	XP_011541980.1:p.Ser3620=
XM_011543679.1:c.*82C>T	XP_011541981.1:n.*82C>T
NM_032119.4:c.10860C>T MANE Select	NP_115495.3:p.Ser3620=
XM_017009963.2:c.10881C>T	XP_016865452.1:p.Ser3627=
XM_017009964.2:c.10878C>T	XP_016865453.1:p.Ser3626=
XM_017009965.1:c.10878C>T	XP_016865454.1:p.Ser3626=
XM_017009966.2:c.10800C>T	XP_016865455.1:p.Ser3600=
XM_017009967.1:c.10785C>T	XP_016865456.1:p.Ser3595=
XM_017009968.2:c.10881C>T	XP_016865457.1:p.Ser3627=
XM_017009969.2:c.10881C>T	XP_016865458.1:p.Ser3627=
XM_017009970.2:c.10881C>T	XP_016865459.1:p.Ser3627=
XM_017009971.2:c.10881C>T	XP_016865460.1:p.Ser3627=
XM_017009972.1:c.3999C>T	XP_016865461.1:p.Ser1333=
XM_017009973.1:c.3978C>T	XP_016865462.1:p.Ser1326=
XM_017009974.2:c.*82C>T	XP_016865463.1:n.*82C>T
NR_003149.2:n.10876C>T