Canonical Allele Identifier: CA360394512
Community Standard Title: NM_032119.4(ADGRV1):c.13433+2T>C
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90783327T>C , CM000667.2:g.90783327T>C GRCh38
NC_000005.9:g.90079144T>C , CM000667.1:g.90079144T>C GRCh37
NC_000005.8:g.90114900T>C NCBI36
NG_007083.1:g.229528T>C
NG_007083.2:g.258984T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13433+2T>C MANE Select NP_115495.3:n.13433+2T>C
ENST00000405460.9:c.13433+2T>C MANE Select ENSP00000384582.2:n.13433+2T>C
NM_032119.3:c.13433+2T>C NP_115495.3:n.13433+2T>C
NR_003149.1:n.13446+2T>C
NR_003149.2:n.13449+2T>C
ENST00000405460.6:c.13433+2T>C ENSP00000384582.2:n.13433+2T>C
ENST00000425867.2:c.416+2T>C ENSP00000392618.2:n.416+2T>C
ENST00000425867.3:c.2387+2T>C ENSP00000392618.3:n.2387+2T>C
ENST00000638510.1:n.700+2T>C
ENST00000638975.1:c.62+2T>C ENSP00000492630.1:n.62+2T>C
ENST00000639431.1:c.265+107118T>C ENSP00000491057.1:n.265+107118T>C
XM_011543675.1:c.13430+2T>C XP_011541977.1:n.13430+2T>C
XM_011543676.1:c.13352+2T>C XP_011541978.1:n.13352+2T>C
XM_011543677.1:c.10736+2T>C XP_011541979.1:n.10736+2T>C
XM_011543678.1:c.13433+2T>C XP_011541980.1:n.13433+2T>C
XM_017009963.2:c.13454+2T>C XP_016865452.1:n.13454+2T>C
XM_017009964.2:c.13451+2T>C XP_016865453.1:n.13451+2T>C
XM_017009965.1:c.13451+2T>C XP_016865454.1:n.13451+2T>C
XM_017009966.2:c.13373+2T>C XP_016865455.1:n.13373+2T>C
XM_017009967.1:c.13358+2T>C XP_016865456.1:n.13358+2T>C
XM_017009968.2:c.13454+2T>C XP_016865457.1:n.13454+2T>C
XM_017009969.2:c.13454+2T>C XP_016865458.1:n.13454+2T>C
XM_017009970.2:c.13454+2T>C XP_016865459.1:n.13454+2T>C
XM_017009971.2:c.13454+2T>C XP_016865460.1:n.13454+2T>C
XM_017009972.1:c.6572+2T>C XP_016865461.1:n.6572+2T>C
XM_017009973.1:c.6551+2T>C XP_016865462.1:n.6551+2T>C