Canonical Allele Identifier: CA360398858

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90789771-T-C
• MyVariant Identifiers: chr5:g.90085588T>C (hg19) ; chr5:g.90789771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789771T>C , CM000667.2:g.90789771T>C	GRCh38
NC_000005.9:g.90085588T>C , CM000667.1:g.90085588T>C	GRCh37
NC_000005.8:g.90121344T>C	NCBI36
NG_007083.1:g.235972T>C
NG_007083.2:g.265428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13963T>C MANE Select	ENSP00000384582.2:p.Ser4655Pro
ENST00000425867.3:c.2917T>C	ENSP00000392618.3:p.Ser973Pro
ENST00000638510.1:n.1230T>C
ENST00000638975.1:c.592T>C	ENSP00000492630.1:p.Ser198Pro
ENST00000639431.1:c.265+113562T>C	ENSP00000491057.1:n.265+113562T>C
ENST00000640407.1:c.373T>C	ENSP00000491425.1:p.Ser125Pro
ENST00000405460.6:c.13963T>C	ENSP00000384582.2:p.Ser4655Pro
ENST00000425867.2:c.946T>C	ENSP00000392618.2:p.Ser316Pro
NM_032119.3:c.13963T>C	NP_115495.3:p.Ser4655Pro
NR_003149.1:n.13976T>C
XM_011543675.1:c.13960T>C	XP_011541977.1:p.Ser4654Pro
XM_011543676.1:c.13882T>C	XP_011541978.1:p.Ser4628Pro
XM_011543677.1:c.11266T>C	XP_011541979.1:p.Ser3756Pro
XM_011543678.1:c.13963T>C	XP_011541980.1:p.Ser4655Pro
NM_032119.4:c.13963T>C MANE Select	NP_115495.3:p.Ser4655Pro
XM_017009963.2:c.13984T>C	XP_016865452.1:p.Ser4662Pro
XM_017009964.2:c.13981T>C	XP_016865453.1:p.Ser4661Pro
XM_017009965.1:c.13981T>C	XP_016865454.1:p.Ser4661Pro
XM_017009966.2:c.13903T>C	XP_016865455.1:p.Ser4635Pro
XM_017009967.1:c.13888T>C	XP_016865456.1:p.Ser4630Pro
XM_017009968.2:c.13984T>C	XP_016865457.1:p.Ser4662Pro
XM_017009969.2:c.13984T>C	XP_016865458.1:p.Ser4662Pro
XM_017009970.2:c.13984T>C	XP_016865459.1:p.Ser4662Pro
XM_017009971.2:c.13984T>C	XP_016865460.1:p.Ser4662Pro
XM_017009972.1:c.7102T>C	XP_016865461.1:p.Ser2368Pro
XM_017009973.1:c.7081T>C	XP_016865462.1:p.Ser2361Pro
NR_003149.2:n.13979T>C