Canonical Allele Identifier: CA3342092

Gene: ADGRV1

Linked Data

• dbSNP Id: rs749665592
• ExAC: 5:90119291 G / T
• gnomAD v2: 5-90119291-G-T
• gnomAD v4: 5-90823474-G-T
• MyVariant Identifiers: chr5:g.90119291G>T (hg19) ; chr5:g.90823474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823474G>T , CM000667.2:g.90823474G>T	GRCh38
NC_000005.9:g.90119291G>T , CM000667.1:g.90119291G>T	GRCh37
NC_000005.8:g.90155047G>T	NCBI36
NG_007083.1:g.269675G>T
NG_007083.2:g.299131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16246G>T MANE Select	ENSP00000384582.2:p.Val5416Phe
ENST00000425867.3:c.5200G>T	ENSP00000392618.3:p.Val1734Phe
ENST00000638510.1:n.3513G>T
ENST00000639431.1:c.265+147265G>T	ENSP00000491057.1:n.265+147265G>T
ENST00000640061.1:n.128+1292G>T
ENST00000640407.1:c.2656G>T	ENSP00000491425.1:p.Val886Phe
ENST00000405460.6:c.16246G>T	ENSP00000384582.2:p.Val5416Phe
ENST00000425867.2:c.3229G>T	ENSP00000392618.2:p.Val1077Phe
NM_032119.3:c.16246G>T	NP_115495.3:p.Val5416Phe
NR_003149.1:n.16259G>T
XM_011543675.1:c.16243G>T	XP_011541977.1:p.Val5415Phe
XM_011543676.1:c.16165G>T	XP_011541978.1:p.Val5389Phe
XM_011543677.1:c.13549G>T	XP_011541979.1:p.Val4517Phe
NM_032119.4:c.16246G>T MANE Select	NP_115495.3:p.Val5416Phe
XM_017009963.2:c.16267G>T	XP_016865452.1:p.Val5423Phe
XM_017009964.2:c.16264G>T	XP_016865453.1:p.Val5422Phe
XM_017009965.1:c.16264G>T	XP_016865454.1:p.Val5422Phe
XM_017009966.2:c.16186G>T	XP_016865455.1:p.Val5396Phe
XM_017009967.1:c.16171G>T	XP_016865456.1:p.Val5391Phe
XM_017009968.2:c.16087G>T	XP_016865457.1:p.Val5363Phe
XM_017009969.2:c.16267G>T	XP_016865458.1:p.Val5423Phe
XM_017009972.1:c.9385G>T	XP_016865461.1:p.Val3129Phe
XM_017009973.1:c.9364G>T	XP_016865462.1:p.Val3122Phe
NR_003149.2:n.16262G>T