Canonical Allele Identifier: CA360426933
Community Standard Title: NM_032119.4(ADGRV1):c.16449C>G (p.Phe5483Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90829024C>G , CM000667.2:g.90829024C>G GRCh38
NC_000005.9:g.90124841C>G , CM000667.1:g.90124841C>G GRCh37
NC_000005.8:g.90160597C>G NCBI36
NG_007083.1:g.275225C>G
NG_007083.2:g.304681C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16449C>G MANE Select NP_115495.3:p.Phe5483Leu
ENST00000405460.9:c.16449C>G MANE Select ENSP00000384582.2:p.Phe5483Leu
NM_032119.3:c.16449C>G NP_115495.3:p.Phe5483Leu
NR_003149.1:n.16462C>G
NR_003149.2:n.16465C>G
ENST00000405460.6:c.16449C>G ENSP00000384582.2:p.Phe5483Leu
ENST00000425867.2:c.3432C>G ENSP00000392618.2:p.Phe1144Leu
ENST00000425867.3:c.5403C>G ENSP00000392618.3:p.Phe1801Leu
ENST00000638510.1:n.3716C>G
ENST00000639431.1:c.265+152815C>G ENSP00000491057.1:n.265+152815C>G
ENST00000640061.1:n.128+6842C>G
ENST00000640407.1:c.2898C>G ENSP00000491425.1:n.2898C>G
XM_011543675.1:c.16446C>G XP_011541977.1:p.Phe5482Leu
XM_011543676.1:c.16368C>G XP_011541978.1:p.Phe5456Leu
XM_011543677.1:c.13752C>G XP_011541979.1:p.Phe4584Leu
XM_017009963.2:c.16470C>G XP_016865452.1:p.Phe5490Leu
XM_017009964.2:c.16467C>G XP_016865453.1:p.Phe5489Leu
XM_017009965.1:c.16467C>G XP_016865454.1:p.Phe5489Leu
XM_017009966.2:c.16389C>G XP_016865455.1:p.Phe5463Leu
XM_017009967.1:c.16374C>G XP_016865456.1:p.Phe5458Leu
XM_017009968.2:c.16290C>G XP_016865457.1:p.Phe5430Leu
XM_017009969.2:c.16470C>G XP_016865458.1:p.Phe5490Leu
XM_017009972.1:c.9588C>G XP_016865461.1:p.Phe3196Leu
XM_017009973.1:c.9567C>G XP_016865462.1:p.Phe3189Leu