Canonical Allele Identifier: CA3341340
Community Standard Title: NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90778583C>T , CM000667.2:g.90778583C>T GRCh38
NC_000005.9:g.90074400C>T , CM000667.1:g.90074400C>T GRCh37
NC_000005.8:g.90110156C>T NCBI36
NG_007083.1:g.224784C>T
NG_007083.2:g.254240C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12823C>T MANE Select NP_115495.3:p.Gln4275Ter
ENST00000405460.9:c.12823C>T MANE Select ENSP00000384582.2:p.Gln4275Ter
NM_032119.3:c.12823C>T NP_115495.3:p.Gln4275Ter
NR_003149.1:n.12836C>T
NR_003149.2:n.12839C>T
ENST00000405460.6:c.12823C>T ENSP00000384582.2:p.Gln4275Ter
ENST00000425867.3:c.1777C>T ENSP00000392618.3:p.Gln593Ter
ENST00000639431.1:c.265+102374C>T ENSP00000491057.1:n.265+102374C>T
ENST00000640464.1:n.3242C>T
XM_011543675.1:c.12820C>T XP_011541977.1:p.Gln4274Ter
XM_011543676.1:c.12742C>T XP_011541978.1:p.Gln4248Ter
XM_011543677.1:c.10126C>T XP_011541979.1:p.Gln3376Ter
XM_011543678.1:c.12823C>T XP_011541980.1:p.Gln4275Ter
XM_017009963.2:c.12844C>T XP_016865452.1:p.Gln4282Ter
XM_017009964.2:c.12841C>T XP_016865453.1:p.Gln4281Ter
XM_017009965.1:c.12841C>T XP_016865454.1:p.Gln4281Ter
XM_017009966.2:c.12763C>T XP_016865455.1:p.Gln4255Ter
XM_017009967.1:c.12748C>T XP_016865456.1:p.Gln4250Ter
XM_017009968.2:c.12844C>T XP_016865457.1:p.Gln4282Ter
XM_017009969.2:c.12844C>T XP_016865458.1:p.Gln4282Ter
XM_017009970.2:c.12844C>T XP_016865459.1:p.Gln4282Ter
XM_017009971.2:c.12844C>T XP_016865460.1:p.Gln4282Ter
XM_017009972.1:c.5962C>T XP_016865461.1:p.Gln1988Ter
XM_017009973.1:c.5941C>T XP_016865462.1:p.Gln1981Ter