Canonical Allele Identifier: CA242367
Community Standard Title: NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90674099G>A , CM000667.2:g.90674099G>A GRCh38
NC_000005.9:g.89969916G>A , CM000667.1:g.89969916G>A GRCh37
NC_000005.8:g.90005672G>A NCBI36
NG_007083.1:g.120300G>A
NG_007083.2:g.149756G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4975G>A MANE Select NP_115495.3:p.Glu1659Lys
ENST00000405460.9:c.4975G>A MANE Select ENSP00000384582.2:p.Glu1659Lys
NM_032119.3:c.4975G>A NP_115495.3:p.Glu1659Lys
NR_003149.1:n.5071G>A
NR_003149.2:n.5074G>A
ENST00000405460.6:c.4975G>A ENSP00000384582.2:p.Glu1659Lys
ENST00000450321.2:n.310G>A
ENST00000639473.1:n.434G>A
ENST00000639676.1:n.2573G>A
ENST00000640403.1:c.2266G>A ENSP00000492531.1:p.Glu756Lys
XM_011543675.1:c.4975G>A XP_011541977.1:p.Glu1659Lys
XM_011543676.1:c.4975G>A XP_011541978.1:p.Glu1659Lys
XM_011543677.1:c.2278G>A XP_011541979.1:p.Glu760Lys
XM_011543678.1:c.4975G>A XP_011541980.1:p.Glu1659Lys
XM_011543679.1:c.4975G>A XP_011541981.1:p.Glu1659Lys
XM_017009963.2:c.4975G>A XP_016865452.1:p.Glu1659Lys
XM_017009964.2:c.4975G>A XP_016865453.1:p.Glu1659Lys
XM_017009965.1:c.4972G>A XP_016865454.1:p.Glu1658Lys
XM_017009966.2:c.4975G>A XP_016865455.1:p.Glu1659Lys
XM_017009967.1:c.4879G>A XP_016865456.1:p.Glu1627Lys
XM_017009968.2:c.4975G>A XP_016865457.1:p.Glu1659Lys
XM_017009969.2:c.4975G>A XP_016865458.1:p.Glu1659Lys
XM_017009970.2:c.4975G>A XP_016865459.1:p.Glu1659Lys
XM_017009971.2:c.4975G>A XP_016865460.1:p.Glu1659Lys
XM_017009974.2:c.4975G>A XP_016865463.1:p.Glu1659Lys