Canonical Allele Identifier: CA3341177
Community Standard Title: NM_032119.4(ADGRV1):c.12235A>G (p.Lys4079Glu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763419A>G , CM000667.2:g.90763419A>G GRCh38
NC_000005.9:g.90059236A>G , CM000667.1:g.90059236A>G GRCh37
NC_000005.8:g.90094992A>G NCBI36
NG_007083.1:g.209620A>G
NG_007083.2:g.239076A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12235A>G MANE Select NP_115495.3:p.Lys4079Glu
ENST00000405460.9:c.12235A>G MANE Select ENSP00000384582.2:p.Lys4079Glu
NM_032119.3:c.12235A>G NP_115495.3:p.Lys4079Glu
NR_003149.1:n.12248A>G
NR_003149.2:n.12251A>G
ENST00000405460.6:c.12235A>G ENSP00000384582.2:p.Lys4079Glu
ENST00000425867.3:c.1189A>G ENSP00000392618.3:p.Lys397Glu
ENST00000639431.1:c.265+87210A>G ENSP00000491057.1:n.265+87210A>G
ENST00000640464.1:n.2654A>G
ENST00000640729.1:n.812A>G
XM_011543675.1:c.12232A>G XP_011541977.1:p.Lys4078Glu
XM_011543676.1:c.12154A>G XP_011541978.1:p.Lys4052Glu
XM_011543677.1:c.9538A>G XP_011541979.1:p.Lys3180Glu
XM_011543678.1:c.12235A>G XP_011541980.1:p.Lys4079Glu
XM_017009963.2:c.12256A>G XP_016865452.1:p.Lys4086Glu
XM_017009964.2:c.12253A>G XP_016865453.1:p.Lys4085Glu
XM_017009965.1:c.12253A>G XP_016865454.1:p.Lys4085Glu
XM_017009966.2:c.12175A>G XP_016865455.1:p.Lys4059Glu
XM_017009967.1:c.12160A>G XP_016865456.1:p.Lys4054Glu
XM_017009968.2:c.12256A>G XP_016865457.1:p.Lys4086Glu
XM_017009969.2:c.12256A>G XP_016865458.1:p.Lys4086Glu
XM_017009970.2:c.12256A>G XP_016865459.1:p.Lys4086Glu
XM_017009971.2:c.12256A>G XP_016865460.1:p.Lys4086Glu
XM_017009972.1:c.5374A>G XP_016865461.1:p.Lys1792Glu
XM_017009973.1:c.5353A>G XP_016865462.1:p.Lys1785Glu