Canonical Allele Identifier: CA360377209

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059143T>C (hg19) ; chr5:g.90763326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763326T>C , CM000667.2:g.90763326T>C	GRCh38
NC_000005.9:g.90059143T>C , CM000667.1:g.90059143T>C	GRCh37
NC_000005.8:g.90094899T>C	NCBI36
NG_007083.1:g.209527T>C
NG_007083.2:g.238983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12142T>C MANE Select	ENSP00000384582.2:p.Ser4048Pro
ENST00000425867.3:c.1096T>C	ENSP00000392618.3:p.Ser366Pro
ENST00000639431.1:c.265+87117T>C	ENSP00000491057.1:n.265+87117T>C
ENST00000640464.1:n.2561T>C
ENST00000640729.1:n.719T>C
ENST00000405460.6:c.12142T>C	ENSP00000384582.2:p.Ser4048Pro
NM_032119.3:c.12142T>C	NP_115495.3:p.Ser4048Pro
NR_003149.1:n.12155T>C
XM_011543675.1:c.12139T>C	XP_011541977.1:p.Ser4047Pro
XM_011543676.1:c.12061T>C	XP_011541978.1:p.Ser4021Pro
XM_011543677.1:c.9445T>C	XP_011541979.1:p.Ser3149Pro
XM_011543678.1:c.12142T>C	XP_011541980.1:p.Ser4048Pro
NM_032119.4:c.12142T>C MANE Select	NP_115495.3:p.Ser4048Pro
XM_017009963.2:c.12163T>C	XP_016865452.1:p.Ser4055Pro
XM_017009964.2:c.12160T>C	XP_016865453.1:p.Ser4054Pro
XM_017009965.1:c.12160T>C	XP_016865454.1:p.Ser4054Pro
XM_017009966.2:c.12082T>C	XP_016865455.1:p.Ser4028Pro
XM_017009967.1:c.12067T>C	XP_016865456.1:p.Ser4023Pro
XM_017009968.2:c.12163T>C	XP_016865457.1:p.Ser4055Pro
XM_017009969.2:c.12163T>C	XP_016865458.1:p.Ser4055Pro
XM_017009970.2:c.12163T>C	XP_016865459.1:p.Ser4055Pro
XM_017009971.2:c.12163T>C	XP_016865460.1:p.Ser4055Pro
XM_017009972.1:c.5281T>C	XP_016865461.1:p.Ser1761Pro
XM_017009973.1:c.5260T>C	XP_016865462.1:p.Ser1754Pro
NR_003149.2:n.12158T>C