Canonical Allele Identifier: CA360396120

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1212541246
• gnomAD v2: 5-90008107-C-T
• gnomAD v4: 5-90712290-C-T
• MyVariant Identifiers: chr5:g.90008107C>T (hg19) ; chr5:g.90712290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712290C>T , CM000667.2:g.90712290C>T	GRCh38
NC_000005.9:g.90008107C>T , CM000667.1:g.90008107C>T	GRCh37
NC_000005.8:g.90043863C>T	NCBI36
NG_007083.1:g.158491C>T
NG_007083.2:g.187947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9046C>T MANE Select	ENSP00000384582.2:p.Leu3016Phe
ENST00000639431.1:c.265+36081C>T	ENSP00000491057.1:n.265+36081C>T
ENST00000639473.1:n.4505C>T
ENST00000640012.1:c.2853C>T
ENST00000640374.1:n.2190C>T
ENST00000640779.1:c.3775C>T
ENST00000405460.6:c.9046C>T	ENSP00000384582.2:p.Leu3016Phe
ENST00000509621.1:c.1743C>T
NM_032119.3:c.9046C>T	NP_115495.3:p.Leu3016Phe
NR_003149.1:n.9059C>T
XM_011543675.1:c.9043C>T	XP_011541977.1:p.Leu3015Phe
XM_011543676.1:c.8965C>T	XP_011541978.1:p.Leu2989Phe
XM_011543677.1:c.6349C>T	XP_011541979.1:p.Leu2117Phe
XM_011543678.1:c.9046C>T	XP_011541980.1:p.Leu3016Phe
XM_011543679.1:c.9046C>T	XP_011541981.1:p.Leu3016Phe
NM_032119.4:c.9046C>T MANE Select	NP_115495.3:p.Leu3016Phe
XM_017009963.2:c.9067C>T	XP_016865452.1:p.Leu3023Phe
XM_017009964.2:c.9064C>T	XP_016865453.1:p.Leu3022Phe
XM_017009965.1:c.9064C>T	XP_016865454.1:p.Leu3022Phe
XM_017009966.2:c.8986C>T	XP_016865455.1:p.Leu2996Phe
XM_017009967.1:c.8971C>T	XP_016865456.1:p.Leu2991Phe
XM_017009968.2:c.9067C>T	XP_016865457.1:p.Leu3023Phe
XM_017009969.2:c.9067C>T	XP_016865458.1:p.Leu3023Phe
XM_017009970.2:c.9067C>T	XP_016865459.1:p.Leu3023Phe
XM_017009971.2:c.9067C>T	XP_016865460.1:p.Leu3023Phe
XM_017009972.1:c.2185C>T	XP_016865461.1:p.Leu729Phe
XM_017009973.1:c.2164C>T	XP_016865462.1:p.Leu722Phe
XM_017009974.2:c.9067C>T	XP_016865463.1:p.Leu3023Phe
NR_003149.2:n.9062C>T