Canonical Allele Identifier: CA3339593

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90679631T>C , CM000667.2:g.90679631T>C	GRCh38
NC_000005.9:g.89975448T>C , CM000667.1:g.89975448T>C	GRCh37
NC_000005.8:g.90011204T>C	NCBI36
NG_007083.1:g.125832T>C
NG_007083.2:g.155288T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.5524+2T>C MANE Select	NP_115495.3:n.5524+2T>C
ENST00000405460.9:c.5524+2T>C MANE Select	ENSP00000384582.2:n.5524+2T>C
NM_032119.3:c.5524+2T>C	NP_115495.3:n.5524+2T>C
NR_003149.1:n.5620+2T>C
NR_003149.2:n.5623+2T>C
ENST00000405460.6:c.5524+2T>C	ENSP00000384582.2:n.5524+2T>C
ENST00000639431.1:c.265+3422T>C	ENSP00000491057.1:n.265+3422T>C
ENST00000639473.1:n.983+2T>C
ENST00000640012.1:c.24+2T>C
ENST00000640403.1:c.2815+2T>C	ENSP00000492531.1:n.2815+2T>C
ENST00000640779.1:c.336+2T>C
XM_011543675.1:c.5521+2T>C	XP_011541977.1:n.5521+2T>C
XM_011543676.1:c.5444-1684T>C	XP_011541978.1:n.5444-1684T>C
XM_011543677.1:c.2827+2T>C	XP_011541979.1:n.2827+2T>C
XM_011543678.1:c.5524+2T>C	XP_011541980.1:n.5524+2T>C
XM_011543679.1:c.5524+2T>C	XP_011541981.1:n.5524+2T>C
XM_017009963.2:c.5524+2T>C	XP_016865452.1:n.5524+2T>C
XM_017009964.2:c.5521+2T>C	XP_016865453.1:n.5521+2T>C
XM_017009965.1:c.5521+2T>C	XP_016865454.1:n.5521+2T>C
XM_017009966.2:c.5444-1684T>C	XP_016865455.1:n.5444-1684T>C
XM_017009967.1:c.5428+2T>C	XP_016865456.1:n.5428+2T>C
XM_017009968.2:c.5524+2T>C	XP_016865457.1:n.5524+2T>C
XM_017009969.2:c.5524+2T>C	XP_016865458.1:n.5524+2T>C
XM_017009970.2:c.5524+2T>C	XP_016865459.1:n.5524+2T>C
XM_017009971.2:c.5524+2T>C	XP_016865460.1:n.5524+2T>C
XM_017009973.1:c.-1276+2T>C	XP_016865462.1:n.-1276+2T>C
XM_017009974.2:c.5524+2T>C	XP_016865463.1:n.5524+2T>C