Canonical Allele Identifier: CA138049

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90811046C>T , CM000667.2:g.90811046C>T	GRCh38
NC_000005.9:g.90106863C>T , CM000667.1:g.90106863C>T	GRCh37
NC_000005.8:g.90142619C>T	NCBI36
NG_007083.1:g.257247C>T
NG_007083.2:g.286703C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.15786C>T MANE Select	NP_115495.3:p.Phe5262=
ENST00000405460.9:c.15786C>T MANE Select	ENSP00000384582.2:p.Phe5262=
NM_032119.3:c.15786C>T	NP_115495.3:p.Phe5262=
NR_003149.1:n.15799C>T
NR_003149.2:n.15802C>T
ENST00000405460.6:c.15786C>T	ENSP00000384582.2:p.Phe5262=
ENST00000425867.2:c.2769C>T	ENSP00000392618.2:p.Phe923=
ENST00000425867.3:c.4740C>T	ENSP00000392618.3:p.Phe1580=
ENST00000638510.1:n.3053C>T
ENST00000639431.1:c.265+134837C>T	ENSP00000491057.1:n.265+134837C>T
ENST00000640407.1:c.2196C>T	ENSP00000491425.1:p.Phe732=
XM_011543675.1:c.15783C>T	XP_011541977.1:p.Phe5261=
XM_011543676.1:c.15705C>T	XP_011541978.1:p.Phe5235=
XM_011543677.1:c.13089C>T	XP_011541979.1:p.Phe4363=
XM_017009963.2:c.15807C>T	XP_016865452.1:p.Phe5269=
XM_017009964.2:c.15804C>T	XP_016865453.1:p.Phe5268=
XM_017009965.1:c.15804C>T	XP_016865454.1:p.Phe5268=
XM_017009966.2:c.15726C>T	XP_016865455.1:p.Phe5242=
XM_017009967.1:c.15711C>T	XP_016865456.1:p.Phe5237=
XM_017009968.2:c.15627C>T	XP_016865457.1:p.Phe5209=
XM_017009969.2:c.15807C>T	XP_016865458.1:p.Phe5269=
XM_017009972.1:c.8925C>T	XP_016865461.1:p.Phe2975=
XM_017009973.1:c.8904C>T	XP_016865462.1:p.Phe2968=