Canonical Allele Identifier: CA3341248
Community Standard Title: NM_032119.4(ADGRV1):c.12461C>T (p.Ala4154Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90776510C>T , CM000667.2:g.90776510C>T GRCh38
NC_000005.9:g.90072327C>T , CM000667.1:g.90072327C>T GRCh37
NC_000005.8:g.90108083C>T NCBI36
NG_007083.1:g.222711C>T
NG_007083.2:g.252167C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12461C>T MANE Select NP_115495.3:p.Ala4154Val
ENST00000405460.9:c.12461C>T MANE Select ENSP00000384582.2:p.Ala4154Val
NM_032119.3:c.12461C>T NP_115495.3:p.Ala4154Val
NR_003149.1:n.12474C>T
NR_003149.2:n.12477C>T
ENST00000405460.6:c.12461C>T ENSP00000384582.2:p.Ala4154Val
ENST00000425867.3:c.1415C>T ENSP00000392618.3:p.Ala472Val
ENST00000639431.1:c.265+100301C>T ENSP00000491057.1:n.265+100301C>T
ENST00000640464.1:n.2880C>T
ENST00000640729.1:n.1038C>T
XM_011543675.1:c.12458C>T XP_011541977.1:p.Ala4153Val
XM_011543676.1:c.12380C>T XP_011541978.1:p.Ala4127Val
XM_011543677.1:c.9764C>T XP_011541979.1:p.Ala3255Val
XM_011543678.1:c.12461C>T XP_011541980.1:p.Ala4154Val
XM_017009963.2:c.12482C>T XP_016865452.1:p.Ala4161Val
XM_017009964.2:c.12479C>T XP_016865453.1:p.Ala4160Val
XM_017009965.1:c.12479C>T XP_016865454.1:p.Ala4160Val
XM_017009966.2:c.12401C>T XP_016865455.1:p.Ala4134Val
XM_017009967.1:c.12386C>T XP_016865456.1:p.Ala4129Val
XM_017009968.2:c.12482C>T XP_016865457.1:p.Ala4161Val
XM_017009969.2:c.12482C>T XP_016865458.1:p.Ala4161Val
XM_017009970.2:c.12482C>T XP_016865459.1:p.Ala4161Val
XM_017009971.2:c.12482C>T XP_016865460.1:p.Ala4161Val
XM_017009972.1:c.5600C>T XP_016865461.1:p.Ala1867Val
XM_017009973.1:c.5579C>T XP_016865462.1:p.Ala1860Val