Canonical Allele Identifier: CA122816071

Gene: ADGRV1

Linked Data

• dbSNP Id: rs747114129
• gnomAD v4: 5-90745607-T-C
• MyVariant Identifiers: chr5:g.90041424T>C (hg19) ; chr5:g.90745607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745607T>C , CM000667.2:g.90745607T>C	GRCh38
NC_000005.9:g.90041424T>C , CM000667.1:g.90041424T>C	GRCh37
NC_000005.8:g.90077180T>C	NCBI36
NG_007083.1:g.191808T>C
NG_007083.2:g.221264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10786T>C MANE Select	ENSP00000384582.2:p.Phe3596Leu
ENST00000639431.1:c.265+69398T>C	ENSP00000491057.1:n.265+69398T>C
ENST00000640374.1:n.3930T>C
ENST00000640464.1:n.1205T>C
ENST00000405460.6:c.10786T>C	ENSP00000384582.2:p.Phe3596Leu
ENST00000509621.1:c.3483T>C
NM_032119.3:c.10786T>C	NP_115495.3:p.Phe3596Leu
NR_003149.1:n.10799T>C
XM_011543675.1:c.10783T>C	XP_011541977.1:p.Phe3595Leu
XM_011543676.1:c.10705T>C	XP_011541978.1:p.Phe3569Leu
XM_011543677.1:c.8089T>C	XP_011541979.1:p.Phe2697Leu
XM_011543678.1:c.10786T>C	XP_011541980.1:p.Phe3596Leu
XM_011543679.1:c.*8T>C	XP_011541981.1:n.*8T>C
NM_032119.4:c.10786T>C MANE Select	NP_115495.3:p.Phe3596Leu
XM_017009963.2:c.10807T>C	XP_016865452.1:p.Phe3603Leu
XM_017009964.2:c.10804T>C	XP_016865453.1:p.Phe3602Leu
XM_017009965.1:c.10804T>C	XP_016865454.1:p.Phe3602Leu
XM_017009966.2:c.10726T>C	XP_016865455.1:p.Phe3576Leu
XM_017009967.1:c.10711T>C	XP_016865456.1:p.Phe3571Leu
XM_017009968.2:c.10807T>C	XP_016865457.1:p.Phe3603Leu
XM_017009969.2:c.10807T>C	XP_016865458.1:p.Phe3603Leu
XM_017009970.2:c.10807T>C	XP_016865459.1:p.Phe3603Leu
XM_017009971.2:c.10807T>C	XP_016865460.1:p.Phe3603Leu
XM_017009972.1:c.3925T>C	XP_016865461.1:p.Phe1309Leu
XM_017009973.1:c.3904T>C	XP_016865462.1:p.Phe1302Leu
XM_017009974.2:c.*8T>C	XP_016865463.1:n.*8T>C
NR_003149.2:n.10802T>C