Canonical Allele Identifier: CA026394

Identifiers and link-outs to other resources

ClinVar Variation Id: 1828
ClinVar RCV Id: RCV000001902
dbSNP Id: rs121434308

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48411988C>T , CM000675.2:g.48411988C>T GRCh38
NC_000013.10:g.48986124C>T , CM000675.1:g.48986124C>T GRCh37
NC_000013.9:g.47884125C>T NCBI36
NG_009009.1:g.113242C>T , LRG_517:g.113242C>T
NG_012874.1:g.37717G>A

Transcript Alleles

HGVS Amino-acid change
NM_000321.2:c.1695+30545C>T , LRG_517t1:c.1695+30545C>T (RB1) NP_000312.2:p.=
NM_001162497.1:c.436G>A (LPAR6) VV NP_001155969.1:p.Gly146Arg
NM_001162498.1:c.436G>A (LPAR6) VV NP_001155970.1:p.Gly146Arg
NM_005767.5:c.436G>A (LPAR6) VV NP_005758.2:p.Gly146Arg
XM_011535171.1:c.1434+30545C>T (RB1) XP_011533473.1:p.=
XM_011535171.2:c.1434+30545C>T (RB1) XP_011533473.1:p.=
XM_024449302.1:c.436G>A (LPAR6) XP_024305070.1:p.Gly146Arg
XM_024449303.1:c.192+3712G>A (LPAR6) XP_024305071.1:p.=
XM_024449304.1:c.192+3712G>A (LPAR6) XP_024305072.1:p.=
ENST00000267163.4:c.1695+30545C>T ENSP00000267163.4:p.=
ENST00000345941.2:c.436G>A ENSP00000344353.2:p.Gly146Arg
ENST00000378434.8:c.436G>A ENSP00000367691.3:p.Gly146Arg
ENST00000462781.5:n.114+3712G>A
ENST00000465365.6:n.1069-3221G>A
ENST00000470937.1:n.117+3712G>A
ENST00000482024.1:n.287G>A
ENST00000620633.4:c.436G>A ENSP00000482660.1:p.Gly146Arg