Canonical Allele Identifier: CA3342562

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90985514T>C , CM000667.2:g.90985514T>C	GRCh38
NC_000005.9:g.90281331T>C , CM000667.1:g.90281331T>C	GRCh37
NC_000005.8:g.90317087T>C	NCBI36
NG_007083.1:g.431715T>C
NG_007083.2:g.461171T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18144T>C MANE Select	NP_115495.3:p.His6048=
ENST00000405460.9:c.18144T>C MANE Select	ENSP00000384582.2:p.His6048=
NM_032119.3:c.18144T>C	NP_115495.3:p.His6048=
NR_003149.1:n.18157T>C
NR_003149.2:n.18160T>C
ENST00000405460.6:c.18144T>C	ENSP00000384582.2:p.His6048=
ENST00000425867.2:c.5127T>C	ENSP00000392618.2:p.His1709=
ENST00000425867.3:c.7098T>C	ENSP00000392618.3:p.His2366=
ENST00000638510.1:n.5411T>C
ENST00000638990.1:c.1356T>C
ENST00000639431.1:c.436T>C	ENSP00000491057.1:n.436T>C
ENST00000639707.1:c.228T>C	ENSP00000492328.1:p.His76=
ENST00000639821.1:c.228T>C	ENSP00000492216.1:p.His76=
ENST00000640369.1:c.228T>C	ENSP00000491401.1:p.His76=
ENST00000640407.1:c.4593T>C	ENSP00000491425.1:n.4593T>C
ENST00000640815.1:c.228T>C	ENSP00000491767.1:p.His76=
XM_011543675.1:c.18141T>C	XP_011541977.1:p.His6047=
XM_011543676.1:c.18063T>C	XP_011541978.1:p.His6021=
XM_011543677.1:c.15447T>C	XP_011541979.1:p.His5149=
XM_017009963.2:c.18165T>C	XP_016865452.1:p.His6055=
XM_017009964.2:c.18162T>C	XP_016865453.1:p.His6054=
XM_017009965.1:c.18162T>C	XP_016865454.1:p.His6054=
XM_017009966.2:c.18084T>C	XP_016865455.1:p.His6028=
XM_017009967.1:c.18069T>C	XP_016865456.1:p.His6023=
XM_017009968.2:c.17985T>C	XP_016865457.1:p.His5995=
XM_017009969.2:c.18165T>C	XP_016865458.1:p.His6055=
XM_017009972.1:c.11283T>C	XP_016865461.1:p.His3761=
XM_017009973.1:c.11262T>C	XP_016865462.1:p.His3754=