Canonical Allele Identifier: CA3338875
Community Standard Title: NM_032119.4(ADGRV1):c.2248G>A (p.Val750Met)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90642643G>A , CM000667.2:g.90642643G>A GRCh38
NC_000005.9:g.89938460G>A , CM000667.1:g.89938460G>A GRCh37
NC_000005.8:g.89974216G>A NCBI36
NG_007083.1:g.88844G>A
NG_007083.2:g.118300G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.2248G>A MANE Select NP_115495.3:p.Val750Met
ENST00000405460.9:c.2248G>A MANE Select ENSP00000384582.2:p.Val750Met
NM_032119.3:c.2248G>A NP_115495.3:p.Val750Met
NR_003149.1:n.2344G>A
NR_003149.2:n.2347G>A
ENST00000405460.6:c.2248G>A ENSP00000384582.2:p.Val750Met
ENST00000504142.1:c.1013G>A
ENST00000504142.2:n.1014G>A
ENST00000512205.1:n.158G>A
ENST00000640403.1:c.-450G>A ENSP00000492531.1:n.-450G>A
XM_011543675.1:c.2248G>A XP_011541977.1:p.Val750Met
XM_011543676.1:c.2248G>A XP_011541978.1:p.Val750Met
XM_011543677.1:c.-450G>A XP_011541979.1:n.-450G>A
XM_011543678.1:c.2248G>A XP_011541980.1:p.Val750Met
XM_011543679.1:c.2248G>A XP_011541981.1:p.Val750Met
XM_017009963.2:c.2248G>A XP_016865452.1:p.Val750Met
XM_017009964.2:c.2248G>A XP_016865453.1:p.Val750Met
XM_017009965.1:c.2245G>A XP_016865454.1:p.Val749Met
XM_017009966.2:c.2248G>A XP_016865455.1:p.Val750Met
XM_017009967.1:c.2152G>A XP_016865456.1:p.Val718Met
XM_017009968.2:c.2248G>A XP_016865457.1:p.Val750Met
XM_017009969.2:c.2248G>A XP_016865458.1:p.Val750Met
XM_017009970.2:c.2248G>A XP_016865459.1:p.Val750Met
XM_017009971.2:c.2248G>A XP_016865460.1:p.Val750Met
XM_017009974.2:c.2248G>A XP_016865463.1:p.Val750Met