Canonical Allele Identifier: CA360377239

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763329-T-C
• MyVariant Identifiers: chr5:g.90059146T>C (hg19) ; chr5:g.90763329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763329T>C , CM000667.2:g.90763329T>C	GRCh38
NC_000005.9:g.90059146T>C , CM000667.1:g.90059146T>C	GRCh37
NC_000005.8:g.90094902T>C	NCBI36
NG_007083.1:g.209530T>C
NG_007083.2:g.238986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12145T>C MANE Select	ENSP00000384582.2:p.Ser4049Pro
ENST00000425867.3:c.1099T>C	ENSP00000392618.3:p.Ser367Pro
ENST00000639431.1:c.265+87120T>C	ENSP00000491057.1:n.265+87120T>C
ENST00000640464.1:n.2564T>C
ENST00000640729.1:n.722T>C
ENST00000405460.6:c.12145T>C	ENSP00000384582.2:p.Ser4049Pro
NM_032119.3:c.12145T>C	NP_115495.3:p.Ser4049Pro
NR_003149.1:n.12158T>C
XM_011543675.1:c.12142T>C	XP_011541977.1:p.Ser4048Pro
XM_011543676.1:c.12064T>C	XP_011541978.1:p.Ser4022Pro
XM_011543677.1:c.9448T>C	XP_011541979.1:p.Ser3150Pro
XM_011543678.1:c.12145T>C	XP_011541980.1:p.Ser4049Pro
NM_032119.4:c.12145T>C MANE Select	NP_115495.3:p.Ser4049Pro
XM_017009963.2:c.12166T>C	XP_016865452.1:p.Ser4056Pro
XM_017009964.2:c.12163T>C	XP_016865453.1:p.Ser4055Pro
XM_017009965.1:c.12163T>C	XP_016865454.1:p.Ser4055Pro
XM_017009966.2:c.12085T>C	XP_016865455.1:p.Ser4029Pro
XM_017009967.1:c.12070T>C	XP_016865456.1:p.Ser4024Pro
XM_017009968.2:c.12166T>C	XP_016865457.1:p.Ser4056Pro
XM_017009969.2:c.12166T>C	XP_016865458.1:p.Ser4056Pro
XM_017009970.2:c.12166T>C	XP_016865459.1:p.Ser4056Pro
XM_017009971.2:c.12166T>C	XP_016865460.1:p.Ser4056Pro
XM_017009972.1:c.5284T>C	XP_016865461.1:p.Ser1762Pro
XM_017009973.1:c.5263T>C	XP_016865462.1:p.Ser1755Pro
NR_003149.2:n.12161T>C