Canonical Allele Identifier: CA138240
Community Standard Title: NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90705409C>T , CM000667.2:g.90705409C>T GRCh38
NC_000005.9:g.90001226C>T , CM000667.1:g.90001226C>T GRCh37
NC_000005.8:g.90036982C>T NCBI36
NG_007083.1:g.151610C>T
NG_007083.2:g.181066C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8396C>T MANE Select NP_115495.3:p.Pro2799Leu
ENST00000405460.9:c.8396C>T MANE Select ENSP00000384582.2:p.Pro2799Leu
NM_032119.3:c.8396C>T NP_115495.3:p.Pro2799Leu
NR_003149.1:n.8409C>T
NR_003149.2:n.8412C>T
ENST00000405460.6:c.8396C>T ENSP00000384582.2:p.Pro2799Leu
ENST00000509621.1:c.1093C>T
ENST00000639431.1:c.265+29200C>T ENSP00000491057.1:n.265+29200C>T
ENST00000639473.1:n.3855C>T
ENST00000640012.1:c.2203C>T
ENST00000640374.1:n.1540C>T
ENST00000640403.1:c.5687C>T ENSP00000492531.1:p.Pro1896Leu
ENST00000640779.1:c.3125C>T
XM_011543675.1:c.8393C>T XP_011541977.1:p.Pro2798Leu
XM_011543676.1:c.8315C>T XP_011541978.1:p.Pro2772Leu
XM_011543677.1:c.5699C>T XP_011541979.1:p.Pro1900Leu
XM_011543678.1:c.8396C>T XP_011541980.1:p.Pro2799Leu
XM_011543679.1:c.8396C>T XP_011541981.1:p.Pro2799Leu
XM_017009963.2:c.8417C>T XP_016865452.1:p.Pro2806Leu
XM_017009964.2:c.8414C>T XP_016865453.1:p.Pro2805Leu
XM_017009965.1:c.8414C>T XP_016865454.1:p.Pro2805Leu
XM_017009966.2:c.8336C>T XP_016865455.1:p.Pro2779Leu
XM_017009967.1:c.8321C>T XP_016865456.1:p.Pro2774Leu
XM_017009968.2:c.8417C>T XP_016865457.1:p.Pro2806Leu
XM_017009969.2:c.8417C>T XP_016865458.1:p.Pro2806Leu
XM_017009970.2:c.8417C>T XP_016865459.1:p.Pro2806Leu
XM_017009971.2:c.8417C>T XP_016865460.1:p.Pro2806Leu
XM_017009972.1:c.1535C>T XP_016865461.1:p.Pro512Leu
XM_017009973.1:c.1514C>T XP_016865462.1:p.Pro505Leu
XM_017009974.2:c.8417C>T XP_016865463.1:p.Pro2806Leu