Canonical Allele Identifier: CA3341163

Gene: ADGRV1

Linked Data

• dbSNP Id: rs545715587
• ExAC: 5:90059156 C / T
• gnomAD v2: 5-90059156-C-T
• gnomAD v4: 5-90763339-C-T
• COSMIC: COSM4461654
• MyVariant Identifiers: chr5:g.90059156C>T (hg19) ; chr5:g.90763339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763339C>T , CM000667.2:g.90763339C>T	GRCh38
NC_000005.9:g.90059156C>T , CM000667.1:g.90059156C>T	GRCh37
NC_000005.8:g.90094912C>T	NCBI36
NG_007083.1:g.209540C>T
NG_007083.2:g.238996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12155C>T MANE Select	ENSP00000384582.2:p.Pro4052Leu
ENST00000425867.3:c.1109C>T	ENSP00000392618.3:p.Pro370Leu
ENST00000639431.1:c.265+87130C>T	ENSP00000491057.1:n.265+87130C>T
ENST00000640464.1:n.2574C>T
ENST00000640729.1:n.732C>T
ENST00000405460.6:c.12155C>T	ENSP00000384582.2:p.Pro4052Leu
NM_032119.3:c.12155C>T	NP_115495.3:p.Pro4052Leu
NR_003149.1:n.12168C>T
XM_011543675.1:c.12152C>T	XP_011541977.1:p.Pro4051Leu
XM_011543676.1:c.12074C>T	XP_011541978.1:p.Pro4025Leu
XM_011543677.1:c.9458C>T	XP_011541979.1:p.Pro3153Leu
XM_011543678.1:c.12155C>T	XP_011541980.1:p.Pro4052Leu
NM_032119.4:c.12155C>T MANE Select	NP_115495.3:p.Pro4052Leu
XM_017009963.2:c.12176C>T	XP_016865452.1:p.Pro4059Leu
XM_017009964.2:c.12173C>T	XP_016865453.1:p.Pro4058Leu
XM_017009965.1:c.12173C>T	XP_016865454.1:p.Pro4058Leu
XM_017009966.2:c.12095C>T	XP_016865455.1:p.Pro4032Leu
XM_017009967.1:c.12080C>T	XP_016865456.1:p.Pro4027Leu
XM_017009968.2:c.12176C>T	XP_016865457.1:p.Pro4059Leu
XM_017009969.2:c.12176C>T	XP_016865458.1:p.Pro4059Leu
XM_017009970.2:c.12176C>T	XP_016865459.1:p.Pro4059Leu
XM_017009971.2:c.12176C>T	XP_016865460.1:p.Pro4059Leu
XM_017009972.1:c.5294C>T	XP_016865461.1:p.Pro1765Leu
XM_017009973.1:c.5273C>T	XP_016865462.1:p.Pro1758Leu
NR_003149.2:n.12171C>T