Canonical Allele Identifier: CA16618223
Community Standard Title: NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810235C>G , CM000667.2:g.90810235C>G GRCh38
NC_000005.9:g.90106052C>G , CM000667.1:g.90106052C>G GRCh37
NC_000005.8:g.90141808C>G NCBI36
NG_007083.1:g.256436C>G
NG_007083.2:g.285892C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14975C>G MANE Select NP_115495.3:p.Ser4992Ter
ENST00000405460.9:c.14975C>G MANE Select ENSP00000384582.2:p.Ser4992Ter
NM_032119.3:c.14975C>G NP_115495.3:p.Ser4992Ter
NR_003149.1:n.14988C>G
NR_003149.2:n.14991C>G
ENST00000405460.6:c.14975C>G ENSP00000384582.2:p.Ser4992Ter
ENST00000425867.2:c.1958C>G ENSP00000392618.2:p.Ser653Ter
ENST00000425867.3:c.3929C>G ENSP00000392618.3:p.Ser1310Ter
ENST00000638510.1:n.2242C>G
ENST00000638585.1:n.430C>G
ENST00000639431.1:c.265+134026C>G ENSP00000491057.1:n.265+134026C>G
ENST00000640407.1:c.1385C>G ENSP00000491425.1:p.Ser462Ter
XM_011543675.1:c.14972C>G XP_011541977.1:p.Ser4991Ter
XM_011543676.1:c.14894C>G XP_011541978.1:p.Ser4965Ter
XM_011543677.1:c.12278C>G XP_011541979.1:p.Ser4093Ter
XM_011543678.1:c.14973-3C>G XP_011541980.1:n.14973-3C>G
XM_017009963.2:c.14996C>G XP_016865452.1:p.Ser4999Ter
XM_017009964.2:c.14993C>G XP_016865453.1:p.Ser4998Ter
XM_017009965.1:c.14993C>G XP_016865454.1:p.Ser4998Ter
XM_017009966.2:c.14915C>G XP_016865455.1:p.Ser4972Ter
XM_017009967.1:c.14900C>G XP_016865456.1:p.Ser4967Ter
XM_017009968.2:c.14819-3C>G XP_016865457.1:n.14819-3C>G
XM_017009969.2:c.14996C>G XP_016865458.1:p.Ser4999Ter
XM_017009970.2:c.14994-3C>G XP_016865459.1:n.14994-3C>G
XM_017009971.2:c.14821C>G XP_016865460.1:p.Gln4941Glu
XM_017009972.1:c.8114C>G XP_016865461.1:p.Ser2705Ter
XM_017009973.1:c.8093C>G XP_016865462.1:p.Ser2698Ter