Canonical Allele Identifier: CA360408206

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810448T>C , CM000667.2:g.90810448T>C	GRCh38
NC_000005.9:g.90106265T>C , CM000667.1:g.90106265T>C	GRCh37
NC_000005.8:g.90142021T>C	NCBI36
NG_007083.1:g.256649T>C
NG_007083.2:g.286105T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.15188T>C MANE Select	NP_115495.3:p.Leu5063Pro
ENST00000405460.9:c.15188T>C MANE Select	ENSP00000384582.2:p.Leu5063Pro
NM_032119.3:c.15188T>C	NP_115495.3:p.Leu5063Pro
NR_003149.1:n.15201T>C
NR_003149.2:n.15204T>C
ENST00000405460.6:c.15188T>C	ENSP00000384582.2:p.Leu5063Pro
ENST00000425867.2:c.2171T>C	ENSP00000392618.2:p.Leu724Pro
ENST00000425867.3:c.4142T>C	ENSP00000392618.3:p.Leu1381Pro
ENST00000638510.1:n.2455T>C
ENST00000639431.1:c.265+134239T>C	ENSP00000491057.1:n.265+134239T>C
ENST00000640407.1:c.1598T>C	ENSP00000491425.1:p.Leu533Pro
XM_011543675.1:c.15185T>C	XP_011541977.1:p.Leu5062Pro
XM_011543676.1:c.15107T>C	XP_011541978.1:p.Leu5036Pro
XM_011543677.1:c.12491T>C	XP_011541979.1:p.Leu4164Pro
XM_017009963.2:c.15209T>C	XP_016865452.1:p.Leu5070Pro
XM_017009964.2:c.15206T>C	XP_016865453.1:p.Leu5069Pro
XM_017009965.1:c.15206T>C	XP_016865454.1:p.Leu5069Pro
XM_017009966.2:c.15128T>C	XP_016865455.1:p.Leu5043Pro
XM_017009967.1:c.15113T>C	XP_016865456.1:p.Leu5038Pro
XM_017009968.2:c.15029T>C	XP_016865457.1:p.Leu5010Pro
XM_017009969.2:c.15209T>C	XP_016865458.1:p.Leu5070Pro
XM_017009971.2:c.*142T>C	XP_016865460.1:n.*142T>C
XM_017009972.1:c.8327T>C	XP_016865461.1:p.Leu2776Pro
XM_017009973.1:c.8306T>C	XP_016865462.1:p.Leu2769Pro