Canonical Allele Identifier: CA3338542

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2166113
• ClinVar RCV Id: RCV003084712
• dbSNP Id: rs760479201
• ExAC: 5:89923031 C / T
• gnomAD v2: 5-89923031-C-T
• gnomAD v4: 5-90627214-C-T
• MyVariant Identifiers: chr5:g.89923031C>T (hg19) ; chr5:g.90627214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627214C>T , CM000667.2:g.90627214C>T	GRCh38
NC_000005.9:g.89923031C>T , CM000667.1:g.89923031C>T	GRCh37
NC_000005.8:g.89958787C>T	NCBI36
NG_007083.1:g.73415C>T
NG_007083.2:g.102871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.676C>T MANE Select	ENSP00000384582.2:p.Pro226Ser
ENST00000640083.1:n.381C>T
ENST00000640109.1:n.772C>T
ENST00000640281.1:n.735C>T
ENST00000405460.6:c.676C>T	ENSP00000384582.2:p.Pro226Ser
NM_032119.3:c.676C>T	NP_115495.3:p.Pro226Ser
NR_003149.1:n.772C>T
XM_011543675.1:c.676C>T	XP_011541977.1:p.Pro226Ser
XM_011543676.1:c.676C>T	XP_011541978.1:p.Pro226Ser
XM_011543678.1:c.676C>T	XP_011541980.1:p.Pro226Ser
XM_011543679.1:c.676C>T	XP_011541981.1:p.Pro226Ser
NM_032119.4:c.676C>T MANE Select	NP_115495.3:p.Pro226Ser
XM_017009963.2:c.676C>T	XP_016865452.1:p.Pro226Ser
XM_017009964.2:c.676C>T	XP_016865453.1:p.Pro226Ser
XM_017009965.1:c.673C>T	XP_016865454.1:p.Pro225Ser
XM_017009966.2:c.676C>T	XP_016865455.1:p.Pro226Ser
XM_017009967.1:c.580C>T	XP_016865456.1:p.Pro194Ser
XM_017009968.2:c.676C>T	XP_016865457.1:p.Pro226Ser
XM_017009969.2:c.676C>T	XP_016865458.1:p.Pro226Ser
XM_017009970.2:c.676C>T	XP_016865459.1:p.Pro226Ser
XM_017009971.2:c.676C>T	XP_016865460.1:p.Pro226Ser
XM_017009974.2:c.676C>T	XP_016865463.1:p.Pro226Ser
NR_003149.2:n.775C>T