Canonical Allele Identifier: CA3340790

Gene: ADGRV1

Linked Data

• dbSNP Id: rs755222435
• ExAC: 5:90040892 T / C
• gnomAD v2: 5-90040892-T-C
• gnomAD v4: 5-90745075-T-C
• MyVariant Identifiers: chr5:g.90040892T>C (hg19) ; chr5:g.90745075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745075T>C , CM000667.2:g.90745075T>C	GRCh38
NC_000005.9:g.90040892T>C , CM000667.1:g.90040892T>C	GRCh37
NC_000005.8:g.90076648T>C	NCBI36
NG_007083.1:g.191276T>C
NG_007083.2:g.220732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10579T>C MANE Select	ENSP00000384582.2:p.Ser3527Pro
ENST00000639431.1:c.265+68866T>C	ENSP00000491057.1:n.265+68866T>C
ENST00000640374.1:n.3723T>C
ENST00000640464.1:n.998T>C
ENST00000405460.6:c.10579T>C	ENSP00000384582.2:p.Ser3527Pro
ENST00000509621.1:c.3276T>C
NM_032119.3:c.10579T>C	NP_115495.3:p.Ser3527Pro
NR_003149.1:n.10592T>C
XM_011543675.1:c.10576T>C	XP_011541977.1:p.Ser3526Pro
XM_011543676.1:c.10498T>C	XP_011541978.1:p.Ser3500Pro
XM_011543677.1:c.7882T>C	XP_011541979.1:p.Ser2628Pro
XM_011543678.1:c.10579T>C	XP_011541980.1:p.Ser3527Pro
XM_011543679.1:c.10579T>C	XP_011541981.1:p.Ser3527Pro
NM_032119.4:c.10579T>C MANE Select	NP_115495.3:p.Ser3527Pro
XM_017009963.2:c.10600T>C	XP_016865452.1:p.Ser3534Pro
XM_017009964.2:c.10597T>C	XP_016865453.1:p.Ser3533Pro
XM_017009965.1:c.10597T>C	XP_016865454.1:p.Ser3533Pro
XM_017009966.2:c.10519T>C	XP_016865455.1:p.Ser3507Pro
XM_017009967.1:c.10504T>C	XP_016865456.1:p.Ser3502Pro
XM_017009968.2:c.10600T>C	XP_016865457.1:p.Ser3534Pro
XM_017009969.2:c.10600T>C	XP_016865458.1:p.Ser3534Pro
XM_017009970.2:c.10600T>C	XP_016865459.1:p.Ser3534Pro
XM_017009971.2:c.10600T>C	XP_016865460.1:p.Ser3534Pro
XM_017009972.1:c.3718T>C	XP_016865461.1:p.Ser1240Pro
XM_017009973.1:c.3697T>C	XP_016865462.1:p.Ser1233Pro
XM_017009974.2:c.10600T>C	XP_016865463.1:p.Ser3534Pro
NR_003149.2:n.10595T>C