Canonical Allele Identifier: CA360371370

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2875090
• ClinVar RCV Id: RCV003714900
• dbSNP Id: rs1458041924
• gnomAD v2: 5-89988515-T-C
• gnomAD v4: 5-90692698-T-C
• MyVariant Identifiers: chr5:g.89988515T>C (hg19) ; chr5:g.90692698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692698T>C , CM000667.2:g.90692698T>C	GRCh38
NC_000005.9:g.89988515T>C , CM000667.1:g.89988515T>C	GRCh37
NC_000005.8:g.90024271T>C	NCBI36
NG_007083.1:g.138899T>C
NG_007083.2:g.168355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7045T>C MANE Select	ENSP00000384582.2:p.Tyr2349His
ENST00000639431.1:c.265+16489T>C	ENSP00000491057.1:n.265+16489T>C
ENST00000639473.1:n.2504T>C
ENST00000640012.1:c.852T>C
ENST00000640374.1:n.189T>C
ENST00000640403.1:c.4336T>C	ENSP00000492531.1:p.Tyr1446His
ENST00000640779.1:c.1774T>C
ENST00000405460.6:c.7045T>C	ENSP00000384582.2:p.Tyr2349His
NM_032119.3:c.7045T>C	NP_115495.3:p.Tyr2349His
NR_003149.1:n.7058T>C
XM_011543675.1:c.7042T>C	XP_011541977.1:p.Tyr2348His
XM_011543676.1:c.6964T>C	XP_011541978.1:p.Tyr2322His
XM_011543677.1:c.4348T>C	XP_011541979.1:p.Tyr1450His
XM_011543678.1:c.7045T>C	XP_011541980.1:p.Tyr2349His
XM_011543679.1:c.7045T>C	XP_011541981.1:p.Tyr2349His
NM_032119.4:c.7045T>C MANE Select	NP_115495.3:p.Tyr2349His
XM_017009963.2:c.7045T>C	XP_016865452.1:p.Tyr2349His
XM_017009964.2:c.7042T>C	XP_016865453.1:p.Tyr2348His
XM_017009965.1:c.7042T>C	XP_016865454.1:p.Tyr2348His
XM_017009966.2:c.6964T>C	XP_016865455.1:p.Tyr2322His
XM_017009967.1:c.6949T>C	XP_016865456.1:p.Tyr2317His
XM_017009968.2:c.7045T>C	XP_016865457.1:p.Tyr2349His
XM_017009969.2:c.7045T>C	XP_016865458.1:p.Tyr2349His
XM_017009970.2:c.7045T>C	XP_016865459.1:p.Tyr2349His
XM_017009971.2:c.7045T>C	XP_016865460.1:p.Tyr2349His
XM_017009972.1:c.163T>C	XP_016865461.1:p.Tyr55His
XM_017009973.1:c.163T>C	XP_016865462.1:p.Tyr55His
XM_017009974.2:c.7045T>C	XP_016865463.1:p.Tyr2349His
NR_003149.2:n.7061T>C