Canonical Allele Identifier: CA360392673
Community Standard Title: NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783147A>G , CM000667.2:g.90783147A>G GRCh38
NC_000005.9:g.90078964A>G , CM000667.1:g.90078964A>G GRCh37
NC_000005.8:g.90114720A>G NCBI36
NG_007083.1:g.229348A>G
NG_007083.2:g.258804A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13255A>G MANE Select NP_115495.3:p.Met4419Val
ENST00000405460.9:c.13255A>G MANE Select ENSP00000384582.2:p.Met4419Val
NM_032119.3:c.13255A>G NP_115495.3:p.Met4419Val
NR_003149.1:n.13268A>G
NR_003149.2:n.13271A>G
ENST00000405460.6:c.13255A>G ENSP00000384582.2:p.Met4419Val
ENST00000425867.2:c.238A>G ENSP00000392618.2:p.Met80Val
ENST00000425867.3:c.2209A>G ENSP00000392618.3:p.Met737Val
ENST00000638510.1:n.522A>G
ENST00000639431.1:c.265+106938A>G ENSP00000491057.1:n.265+106938A>G
XM_011543675.1:c.13252A>G XP_011541977.1:p.Met4418Val
XM_011543676.1:c.13174A>G XP_011541978.1:p.Met4392Val
XM_011543677.1:c.10558A>G XP_011541979.1:p.Met3520Val
XM_011543678.1:c.13255A>G XP_011541980.1:p.Met4419Val
XM_017009963.2:c.13276A>G XP_016865452.1:p.Met4426Val
XM_017009964.2:c.13273A>G XP_016865453.1:p.Met4425Val
XM_017009965.1:c.13273A>G XP_016865454.1:p.Met4425Val
XM_017009966.2:c.13195A>G XP_016865455.1:p.Met4399Val
XM_017009967.1:c.13180A>G XP_016865456.1:p.Met4394Val
XM_017009968.2:c.13276A>G XP_016865457.1:p.Met4426Val
XM_017009969.2:c.13276A>G XP_016865458.1:p.Met4426Val
XM_017009970.2:c.13276A>G XP_016865459.1:p.Met4426Val
XM_017009971.2:c.13276A>G XP_016865460.1:p.Met4426Val
XM_017009972.1:c.6394A>G XP_016865461.1:p.Met2132Val
XM_017009973.1:c.6373A>G XP_016865462.1:p.Met2125Val