Canonical Allele Identifier: CA360401501
Community Standard Title: NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791158C>T , CM000667.2:g.90791158C>T GRCh38
NC_000005.9:g.90086975C>T , CM000667.1:g.90086975C>T GRCh37
NC_000005.8:g.90122731C>T NCBI36
NG_007083.1:g.237359C>T
NG_007083.2:g.266815C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14329C>T MANE Select NP_115495.3:p.Gln4777Ter
ENST00000405460.9:c.14329C>T MANE Select ENSP00000384582.2:p.Gln4777Ter
NM_032119.3:c.14329C>T NP_115495.3:p.Gln4777Ter
NR_003149.1:n.14342C>T
NR_003149.2:n.14345C>T
ENST00000405460.6:c.14329C>T ENSP00000384582.2:p.Gln4777Ter
ENST00000425867.2:c.1312C>T ENSP00000392618.2:p.Gln438Ter
ENST00000425867.3:c.3283C>T ENSP00000392618.3:p.Gln1095Ter
ENST00000507314.1:n.4C>T
ENST00000507314.2:c.4C>T ENSP00000491299.1:p.Gln2Ter
ENST00000638510.1:n.1596C>T
ENST00000638585.1:n.95C>T
ENST00000638975.1:c.958C>T ENSP00000492630.1:p.Gln320Ter
ENST00000639431.1:c.265+114949C>T ENSP00000491057.1:n.265+114949C>T
ENST00000640407.1:c.739C>T ENSP00000491425.1:p.Gln247Ter
XM_011543675.1:c.14326C>T XP_011541977.1:p.Gln4776Ter
XM_011543676.1:c.14248C>T XP_011541978.1:p.Gln4750Ter
XM_011543677.1:c.11632C>T XP_011541979.1:p.Gln3878Ter
XM_011543678.1:c.14329C>T XP_011541980.1:p.Gln4777Ter
XM_017009963.2:c.14350C>T XP_016865452.1:p.Gln4784Ter
XM_017009964.2:c.14347C>T XP_016865453.1:p.Gln4783Ter
XM_017009965.1:c.14347C>T XP_016865454.1:p.Gln4783Ter
XM_017009966.2:c.14269C>T XP_016865455.1:p.Gln4757Ter
XM_017009967.1:c.14254C>T XP_016865456.1:p.Gln4752Ter
XM_017009968.2:c.14350C>T XP_016865457.1:p.Gln4784Ter
XM_017009969.2:c.14350C>T XP_016865458.1:p.Gln4784Ter
XM_017009970.2:c.14350C>T XP_016865459.1:p.Gln4784Ter
XM_017009971.2:c.14350C>T XP_016865460.1:p.Gln4784Ter
XM_017009972.1:c.7468C>T XP_016865461.1:p.Gln2490Ter
XM_017009973.1:c.7447C>T XP_016865462.1:p.Gln2483Ter