Canonical Allele Identifier: CA3341249

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90776513C>T , CM000667.2:g.90776513C>T	GRCh38
NC_000005.9:g.90072330C>T , CM000667.1:g.90072330C>T	GRCh37
NC_000005.8:g.90108086C>T	NCBI36
NG_007083.1:g.222714C>T
NG_007083.2:g.252170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12464C>T MANE Select	NP_115495.3:p.Pro4155Leu
ENST00000405460.9:c.12464C>T MANE Select	ENSP00000384582.2:p.Pro4155Leu
NM_032119.3:c.12464C>T	NP_115495.3:p.Pro4155Leu
NR_003149.1:n.12477C>T
NR_003149.2:n.12480C>T
ENST00000405460.6:c.12464C>T	ENSP00000384582.2:p.Pro4155Leu
ENST00000425867.3:c.1418C>T	ENSP00000392618.3:p.Pro473Leu
ENST00000639431.1:c.265+100304C>T	ENSP00000491057.1:n.265+100304C>T
ENST00000640464.1:n.2883C>T
ENST00000640729.1:n.1041C>T
XM_011543675.1:c.12461C>T	XP_011541977.1:p.Pro4154Leu
XM_011543676.1:c.12383C>T	XP_011541978.1:p.Pro4128Leu
XM_011543677.1:c.9767C>T	XP_011541979.1:p.Pro3256Leu
XM_011543678.1:c.12464C>T	XP_011541980.1:p.Pro4155Leu
XM_017009963.2:c.12485C>T	XP_016865452.1:p.Pro4162Leu
XM_017009964.2:c.12482C>T	XP_016865453.1:p.Pro4161Leu
XM_017009965.1:c.12482C>T	XP_016865454.1:p.Pro4161Leu
XM_017009966.2:c.12404C>T	XP_016865455.1:p.Pro4135Leu
XM_017009967.1:c.12389C>T	XP_016865456.1:p.Pro4130Leu
XM_017009968.2:c.12485C>T	XP_016865457.1:p.Pro4162Leu
XM_017009969.2:c.12485C>T	XP_016865458.1:p.Pro4162Leu
XM_017009970.2:c.12485C>T	XP_016865459.1:p.Pro4162Leu
XM_017009971.2:c.12485C>T	XP_016865460.1:p.Pro4162Leu
XM_017009972.1:c.5603C>T	XP_016865461.1:p.Pro1868Leu
XM_017009973.1:c.5582C>T	XP_016865462.1:p.Pro1861Leu