Canonical Allele Identifier: CA3338588
Community Standard Title: NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627506T>C , CM000667.2:g.90627506T>C GRCh38
NC_000005.9:g.89923323T>C , CM000667.1:g.89923323T>C GRCh37
NC_000005.8:g.89959079T>C NCBI36
NG_007083.1:g.73707T>C
NG_007083.2:g.103163T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.968T>C MANE Select NP_115495.3:p.Ile323Thr
ENST00000405460.9:c.968T>C MANE Select ENSP00000384582.2:p.Ile323Thr
NM_032119.3:c.968T>C NP_115495.3:p.Ile323Thr
NR_003149.1:n.1064T>C
NR_003149.2:n.1067T>C
ENST00000405460.6:c.968T>C ENSP00000384582.2:p.Ile323Thr
ENST00000640083.1:n.673T>C
ENST00000640109.1:n.1064T>C
ENST00000640281.1:n.1027T>C
XM_011543675.1:c.968T>C XP_011541977.1:p.Ile323Thr
XM_011543676.1:c.968T>C XP_011541978.1:p.Ile323Thr
XM_011543678.1:c.968T>C XP_011541980.1:p.Ile323Thr
XM_011543679.1:c.968T>C XP_011541981.1:p.Ile323Thr
XM_017009963.2:c.968T>C XP_016865452.1:p.Ile323Thr
XM_017009964.2:c.968T>C XP_016865453.1:p.Ile323Thr
XM_017009965.1:c.965T>C XP_016865454.1:p.Ile322Thr
XM_017009966.2:c.968T>C XP_016865455.1:p.Ile323Thr
XM_017009967.1:c.872T>C XP_016865456.1:p.Ile291Thr
XM_017009968.2:c.968T>C XP_016865457.1:p.Ile323Thr
XM_017009969.2:c.968T>C XP_016865458.1:p.Ile323Thr
XM_017009970.2:c.968T>C XP_016865459.1:p.Ile323Thr
XM_017009971.2:c.968T>C XP_016865460.1:p.Ile323Thr
XM_017009974.2:c.968T>C XP_016865463.1:p.Ile323Thr