Canonical Allele Identifier: CA3341766
Community Standard Title: NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90802826C>T , CM000667.2:g.90802826C>T GRCh38
NC_000005.9:g.90098643C>T , CM000667.1:g.90098643C>T GRCh37
NC_000005.8:g.90134399C>T NCBI36
NG_007083.1:g.249027C>T
NG_007083.2:g.278483C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14605C>T MANE Select NP_115495.3:p.Leu4869Phe
ENST00000405460.9:c.14605C>T MANE Select ENSP00000384582.2:p.Leu4869Phe
NM_032119.3:c.14605C>T NP_115495.3:p.Leu4869Phe
NR_003149.1:n.14618C>T
NR_003149.2:n.14621C>T
ENST00000405460.6:c.14605C>T ENSP00000384582.2:p.Leu4869Phe
ENST00000425867.2:c.1588C>T ENSP00000392618.2:p.Leu530Phe
ENST00000425867.3:c.3559C>T ENSP00000392618.3:p.Leu1187Phe
ENST00000638510.1:n.1872C>T
ENST00000638585.1:n.371C>T
ENST00000639431.1:c.265+126617C>T ENSP00000491057.1:n.265+126617C>T
ENST00000640407.1:c.1015C>T ENSP00000491425.1:p.Leu339Phe
XM_011543675.1:c.14602C>T XP_011541977.1:p.Leu4868Phe
XM_011543676.1:c.14524C>T XP_011541978.1:p.Leu4842Phe
XM_011543677.1:c.11908C>T XP_011541979.1:p.Leu3970Phe
XM_011543678.1:c.14605C>T XP_011541980.1:p.Leu4869Phe
XM_017009963.2:c.14626C>T XP_016865452.1:p.Leu4876Phe
XM_017009964.2:c.14623C>T XP_016865453.1:p.Leu4875Phe
XM_017009965.1:c.14623C>T XP_016865454.1:p.Leu4875Phe
XM_017009966.2:c.14545C>T XP_016865455.1:p.Leu4849Phe
XM_017009967.1:c.14530C>T XP_016865456.1:p.Leu4844Phe
XM_017009968.2:c.14626C>T XP_016865457.1:p.Leu4876Phe
XM_017009969.2:c.14626C>T XP_016865458.1:p.Leu4876Phe
XM_017009970.2:c.14626C>T XP_016865459.1:p.Leu4876Phe
XM_017009971.2:c.14626C>T XP_016865460.1:p.Leu4876Phe
XM_017009972.1:c.7744C>T XP_016865461.1:p.Leu2582Phe
XM_017009973.1:c.7723C>T XP_016865462.1:p.Leu2575Phe