Canonical Allele Identifier: CA360391377
Gene: ADGRV1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90705508C>G , CM000667.2:g.90705508C>G GRCh38
NC_000005.9:g.90001325C>G , CM000667.1:g.90001325C>G GRCh37
NC_000005.8:g.90037081C>G NCBI36
NG_007083.1:g.151709C>G
NG_007083.2:g.181165C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.8495C>G MANE Select ENSP00000384582.2:p.Ser2832Ter
ENST00000639431.1:c.265+29299C>G ENSP00000491057.1:n.265+29299C>G
ENST00000639473.1:n.3954C>G
ENST00000640012.1:c.2302C>G
ENST00000640374.1:n.1639C>G
ENST00000640403.1:c.5786C>G ENSP00000492531.1:p.Ser1929Ter
ENST00000640779.1:c.3224C>G
ENST00000405460.6:c.8495C>G ENSP00000384582.2:p.Ser2832Ter
ENST00000509621.1:c.1192C>G
NM_032119.3:c.8495C>G NP_115495.3:p.Ser2832Ter
NR_003149.1:n.8508C>G
XM_011543675.1:c.8492C>G XP_011541977.1:p.Ser2831Ter
XM_011543676.1:c.8414C>G XP_011541978.1:p.Ser2805Ter
XM_011543677.1:c.5798C>G XP_011541979.1:p.Ser1933Ter
XM_011543678.1:c.8495C>G XP_011541980.1:p.Ser2832Ter
XM_011543679.1:c.8495C>G XP_011541981.1:p.Ser2832Ter
NM_032119.4:c.8495C>G MANE Select NP_115495.3:p.Ser2832Ter
XM_017009963.2:c.8516C>G XP_016865452.1:p.Ser2839Ter
XM_017009964.2:c.8513C>G XP_016865453.1:p.Ser2838Ter
XM_017009965.1:c.8513C>G XP_016865454.1:p.Ser2838Ter
XM_017009966.2:c.8435C>G XP_016865455.1:p.Ser2812Ter
XM_017009967.1:c.8420C>G XP_016865456.1:p.Ser2807Ter
XM_017009968.2:c.8516C>G XP_016865457.1:p.Ser2839Ter
XM_017009969.2:c.8516C>G XP_016865458.1:p.Ser2839Ter
XM_017009970.2:c.8516C>G XP_016865459.1:p.Ser2839Ter
XM_017009971.2:c.8516C>G XP_016865460.1:p.Ser2839Ter
XM_017009972.1:c.1634C>G XP_016865461.1:p.Ser545Ter
XM_017009973.1:c.1613C>G XP_016865462.1:p.Ser538Ter
XM_017009974.2:c.8516C>G XP_016865463.1:p.Ser2839Ter
NR_003149.2:n.8511C>G