Canonical Allele Identifier: CA360430494
Community Standard Title: NM_032119.4(ADGRV1):c.17488C>T (p.Gln5830Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90854095C>T , CM000667.2:g.90854095C>T GRCh38
NC_000005.9:g.90149912C>T , CM000667.1:g.90149912C>T GRCh37
NC_000005.8:g.90185668C>T NCBI36
NG_007083.1:g.300296C>T
NG_007083.2:g.329752C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.17488C>T MANE Select NP_115495.3:p.Gln5830Ter
ENST00000405460.9:c.17488C>T MANE Select ENSP00000384582.2:p.Gln5830Ter
NM_032119.3:c.17488C>T NP_115495.3:p.Gln5830Ter
NR_003149.1:n.17501C>T
NR_003149.2:n.17504C>T
ENST00000405460.6:c.17488C>T ENSP00000384582.2:p.Gln5830Ter
ENST00000425867.2:c.4471C>T ENSP00000392618.2:p.Gln1491Ter
ENST00000425867.3:c.6442C>T ENSP00000392618.3:p.Gln2148Ter
ENST00000503852.1:n.36C>T
ENST00000638510.1:n.4755C>T
ENST00000638990.1:c.700C>T
ENST00000639431.1:c.266-131249C>T ENSP00000491057.1:n.266-131249C>T
ENST00000640407.1:c.3937C>T ENSP00000491425.1:n.3937C>T
XM_011543675.1:c.17485C>T XP_011541977.1:p.Gln5829Ter
XM_011543676.1:c.17407C>T XP_011541978.1:p.Gln5803Ter
XM_011543677.1:c.14791C>T XP_011541979.1:p.Gln4931Ter
XM_017009963.2:c.17509C>T XP_016865452.1:p.Gln5837Ter
XM_017009964.2:c.17506C>T XP_016865453.1:p.Gln5836Ter
XM_017009965.1:c.17506C>T XP_016865454.1:p.Gln5836Ter
XM_017009966.2:c.17428C>T XP_016865455.1:p.Gln5810Ter
XM_017009967.1:c.17413C>T XP_016865456.1:p.Gln5805Ter
XM_017009968.2:c.17329C>T XP_016865457.1:p.Gln5777Ter
XM_017009969.2:c.17509C>T XP_016865458.1:p.Gln5837Ter
XM_017009972.1:c.10627C>T XP_016865461.1:p.Gln3543Ter
XM_017009973.1:c.10606C>T XP_016865462.1:p.Gln3536Ter