Canonical Allele Identifier: CA122809170
Community Standard Title: NM_032119.4(ADGRV1):c.13367C>T (p.Thr4456Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783259C>T , CM000667.2:g.90783259C>T GRCh38
NC_000005.9:g.90079076C>T , CM000667.1:g.90079076C>T GRCh37
NC_000005.8:g.90114832C>T NCBI36
NG_007083.1:g.229460C>T
NG_007083.2:g.258916C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13367C>T MANE Select NP_115495.3:p.Thr4456Ile
ENST00000405460.9:c.13367C>T MANE Select ENSP00000384582.2:p.Thr4456Ile
NM_032119.3:c.13367C>T NP_115495.3:p.Thr4456Ile
NR_003149.1:n.13380C>T
NR_003149.2:n.13383C>T
ENST00000405460.6:c.13367C>T ENSP00000384582.2:p.Thr4456Ile
ENST00000425867.2:c.350C>T ENSP00000392618.2:p.Thr117Ile
ENST00000425867.3:c.2321C>T ENSP00000392618.3:p.Thr774Ile
ENST00000638510.1:n.634C>T
ENST00000639431.1:c.265+107050C>T ENSP00000491057.1:n.265+107050C>T
XM_011543675.1:c.13364C>T XP_011541977.1:p.Thr4455Ile
XM_011543676.1:c.13286C>T XP_011541978.1:p.Thr4429Ile
XM_011543677.1:c.10670C>T XP_011541979.1:p.Thr3557Ile
XM_011543678.1:c.13367C>T XP_011541980.1:p.Thr4456Ile
XM_017009963.2:c.13388C>T XP_016865452.1:p.Thr4463Ile
XM_017009964.2:c.13385C>T XP_016865453.1:p.Thr4462Ile
XM_017009965.1:c.13385C>T XP_016865454.1:p.Thr4462Ile
XM_017009966.2:c.13307C>T XP_016865455.1:p.Thr4436Ile
XM_017009967.1:c.13292C>T XP_016865456.1:p.Thr4431Ile
XM_017009968.2:c.13388C>T XP_016865457.1:p.Thr4463Ile
XM_017009969.2:c.13388C>T XP_016865458.1:p.Thr4463Ile
XM_017009970.2:c.13388C>T XP_016865459.1:p.Thr4463Ile
XM_017009971.2:c.13388C>T XP_016865460.1:p.Thr4463Ile
XM_017009972.1:c.6506C>T XP_016865461.1:p.Thr2169Ile
XM_017009973.1:c.6485C>T XP_016865462.1:p.Thr2162Ile