Canonical Allele Identifier: CA3340881

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90750594T>C , CM000667.2:g.90750594T>C	GRCh38
NC_000005.9:g.90046411T>C , CM000667.1:g.90046411T>C	GRCh37
NC_000005.8:g.90082167T>C	NCBI36
NG_007083.1:g.196795T>C
NG_007083.2:g.226251T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.11018T>C MANE Select	NP_115495.3:p.Leu3673Pro
ENST00000405460.9:c.11018T>C MANE Select	ENSP00000384582.2:p.Leu3673Pro
NM_032119.3:c.11018T>C	NP_115495.3:p.Leu3673Pro
NR_003149.1:n.11031T>C
NR_003149.2:n.11034T>C
ENST00000405460.6:c.11018T>C	ENSP00000384582.2:p.Leu3673Pro
ENST00000425867.3:c.149T>C	ENSP00000392618.3:p.Leu50Pro
ENST00000509621.1:c.3715T>C
ENST00000639431.1:c.265+74385T>C	ENSP00000491057.1:n.265+74385T>C
ENST00000640374.1:n.4162T>C
ENST00000640464.1:n.1437T>C
XM_011543675.1:c.11015T>C	XP_011541977.1:p.Leu3672Pro
XM_011543676.1:c.10937T>C	XP_011541978.1:p.Leu3646Pro
XM_011543677.1:c.8321T>C	XP_011541979.1:p.Leu2774Pro
XM_011543678.1:c.11018T>C	XP_011541980.1:p.Leu3673Pro
XM_017009963.2:c.11039T>C	XP_016865452.1:p.Leu3680Pro
XM_017009964.2:c.11036T>C	XP_016865453.1:p.Leu3679Pro
XM_017009965.1:c.11036T>C	XP_016865454.1:p.Leu3679Pro
XM_017009966.2:c.10958T>C	XP_016865455.1:p.Leu3653Pro
XM_017009967.1:c.10943T>C	XP_016865456.1:p.Leu3648Pro
XM_017009968.2:c.11039T>C	XP_016865457.1:p.Leu3680Pro
XM_017009969.2:c.11039T>C	XP_016865458.1:p.Leu3680Pro
XM_017009970.2:c.11039T>C	XP_016865459.1:p.Leu3680Pro
XM_017009971.2:c.11039T>C	XP_016865460.1:p.Leu3680Pro
XM_017009972.1:c.4157T>C	XP_016865461.1:p.Leu1386Pro
XM_017009973.1:c.4136T>C	XP_016865462.1:p.Leu1379Pro