Canonical Allele Identifier: CA445416801
Community Standard Title: NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90807693C>T , CM000667.2:g.90807693C>T GRCh38
NC_000005.9:g.90103510C>T , CM000667.1:g.90103510C>T GRCh37
NC_000005.8:g.90139266C>T NCBI36
NG_007083.1:g.253894C>T
NG_007083.2:g.283350C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14928C>T MANE Select NP_115495.3:p.His4976=
ENST00000405460.9:c.14928C>T MANE Select ENSP00000384582.2:p.His4976=
NM_032119.3:c.14928C>T NP_115495.3:p.His4976=
NR_003149.1:n.14941C>T
NR_003149.2:n.14944C>T
ENST00000405460.6:c.14928C>T ENSP00000384582.2:p.His4976=
ENST00000425867.2:c.1911C>T ENSP00000392618.2:p.His637=
ENST00000425867.3:c.3882C>T ENSP00000392618.3:p.His1294=
ENST00000638510.1:n.2195C>T
ENST00000638585.1:n.428-2540C>T
ENST00000639431.1:c.265+131484C>T ENSP00000491057.1:n.265+131484C>T
ENST00000640407.1:c.1338C>T ENSP00000491425.1:p.His446=
XM_011543675.1:c.14925C>T XP_011541977.1:p.His4975=
XM_011543676.1:c.14847C>T XP_011541978.1:p.His4949=
XM_011543677.1:c.12231C>T XP_011541979.1:p.His4077=
XM_011543678.1:c.14928C>T XP_011541980.1:p.His4976=
XM_017009963.2:c.14949C>T XP_016865452.1:p.His4983=
XM_017009964.2:c.14946C>T XP_016865453.1:p.His4982=
XM_017009965.1:c.14946C>T XP_016865454.1:p.His4982=
XM_017009966.2:c.14868C>T XP_016865455.1:p.His4956=
XM_017009967.1:c.14853C>T XP_016865456.1:p.His4951=
XM_017009968.2:c.14774C>T XP_016865457.1:p.Thr4925Ile
XM_017009969.2:c.14949C>T XP_016865458.1:p.His4983=
XM_017009970.2:c.14949C>T XP_016865459.1:p.His4983=
XM_017009971.2:c.14774C>T XP_016865460.1:p.Thr4925Ile
XM_017009972.1:c.8067C>T XP_016865461.1:p.His2689=
XM_017009973.1:c.8046C>T XP_016865462.1:p.His2682=