Canonical Allele Identifier: CA245870
Community Standard Title: NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90728849G>A , CM000667.2:g.90728849G>A GRCh38
NC_000005.9:g.90024666G>A , CM000667.1:g.90024666G>A GRCh37
NC_000005.8:g.90060422G>A NCBI36
NG_007083.1:g.175050G>A
NG_007083.2:g.204506G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.10342G>A MANE Select NP_115495.3:p.Val3448Met
ENST00000405460.9:c.10342G>A MANE Select ENSP00000384582.2:p.Val3448Met
NM_032119.3:c.10342G>A NP_115495.3:p.Val3448Met
NR_003149.1:n.10355G>A
NR_003149.2:n.10358G>A
ENST00000405460.6:c.10342G>A ENSP00000384582.2:p.Val3448Met
ENST00000509621.1:c.3039G>A
ENST00000639431.1:c.265+52640G>A ENSP00000491057.1:n.265+52640G>A
ENST00000640374.1:n.3486G>A
ENST00000640464.1:n.761G>A
XM_011543675.1:c.10339G>A XP_011541977.1:p.Val3447Met
XM_011543676.1:c.10261G>A XP_011541978.1:p.Val3421Met
XM_011543677.1:c.7645G>A XP_011541979.1:p.Val2549Met
XM_011543678.1:c.10342G>A XP_011541980.1:p.Val3448Met
XM_011543679.1:c.10342G>A XP_011541981.1:p.Val3448Met
XM_017009963.2:c.10363G>A XP_016865452.1:p.Val3455Met
XM_017009964.2:c.10360G>A XP_016865453.1:p.Val3454Met
XM_017009965.1:c.10360G>A XP_016865454.1:p.Val3454Met
XM_017009966.2:c.10282G>A XP_016865455.1:p.Val3428Met
XM_017009967.1:c.10267G>A XP_016865456.1:p.Val3423Met
XM_017009968.2:c.10363G>A XP_016865457.1:p.Val3455Met
XM_017009969.2:c.10363G>A XP_016865458.1:p.Val3455Met
XM_017009970.2:c.10363G>A XP_016865459.1:p.Val3455Met
XM_017009971.2:c.10363G>A XP_016865460.1:p.Val3455Met
XM_017009972.1:c.3481G>A XP_016865461.1:p.Val1161Met
XM_017009973.1:c.3460G>A XP_016865462.1:p.Val1154Met
XM_017009974.2:c.10363G>A XP_016865463.1:p.Val3455Met
XR_001742802.1:n.2522+12058C>T
XR_948560.1:n.271+12058C>T