Canonical Allele Identifier: CA360377143

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763320-T-C
• MyVariant Identifiers: chr5:g.90059137T>C (hg19) ; chr5:g.90763320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763320T>C , CM000667.2:g.90763320T>C	GRCh38
NC_000005.9:g.90059137T>C , CM000667.1:g.90059137T>C	GRCh37
NC_000005.8:g.90094893T>C	NCBI36
NG_007083.1:g.209521T>C
NG_007083.2:g.238977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12136T>C MANE Select	ENSP00000384582.2:p.Ser4046Pro
ENST00000425867.3:c.1090T>C	ENSP00000392618.3:p.Ser364Pro
ENST00000639431.1:c.265+87111T>C	ENSP00000491057.1:n.265+87111T>C
ENST00000640464.1:n.2555T>C
ENST00000640729.1:n.713T>C
ENST00000405460.6:c.12136T>C	ENSP00000384582.2:p.Ser4046Pro
NM_032119.3:c.12136T>C	NP_115495.3:p.Ser4046Pro
NR_003149.1:n.12149T>C
XM_011543675.1:c.12133T>C	XP_011541977.1:p.Ser4045Pro
XM_011543676.1:c.12055T>C	XP_011541978.1:p.Ser4019Pro
XM_011543677.1:c.9439T>C	XP_011541979.1:p.Ser3147Pro
XM_011543678.1:c.12136T>C	XP_011541980.1:p.Ser4046Pro
NM_032119.4:c.12136T>C MANE Select	NP_115495.3:p.Ser4046Pro
XM_017009963.2:c.12157T>C	XP_016865452.1:p.Ser4053Pro
XM_017009964.2:c.12154T>C	XP_016865453.1:p.Ser4052Pro
XM_017009965.1:c.12154T>C	XP_016865454.1:p.Ser4052Pro
XM_017009966.2:c.12076T>C	XP_016865455.1:p.Ser4026Pro
XM_017009967.1:c.12061T>C	XP_016865456.1:p.Ser4021Pro
XM_017009968.2:c.12157T>C	XP_016865457.1:p.Ser4053Pro
XM_017009969.2:c.12157T>C	XP_016865458.1:p.Ser4053Pro
XM_017009970.2:c.12157T>C	XP_016865459.1:p.Ser4053Pro
XM_017009971.2:c.12157T>C	XP_016865460.1:p.Ser4053Pro
XM_017009972.1:c.5275T>C	XP_016865461.1:p.Ser1759Pro
XM_017009973.1:c.5254T>C	XP_016865462.1:p.Ser1752Pro
NR_003149.2:n.12152T>C