Canonical Allele Identifier: CA026392

Identifiers and link-outs to other resources

ClinVar Variation Id: 1827
ClinVar RCV Id: RCV000001901
dbSNP Id: rs121434307

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48411862T>A , CM000675.2:g.48411862T>A GRCh38
NC_000013.9:g.47883999T>A NCBI36
NC_000013.10:g.48985998T>A , CM000675.1:g.48985998T>A GRCh37
NG_009009.1:g.113116T>A , LRG_517:g.113116T>A
NG_012874.1:g.37843A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.4:c.1695+30419T>A ENSP00000267163.4:p.=
ENST00000345941.2:c.562A>T ENSP00000344353.2:p.Ile188Phe
ENST00000378434.8:c.562A>T ENSP00000367691.3:p.Ile188Phe
ENST00000462781.5:n.114+3838A>T
ENST00000465365.6:n.1069-3095A>T
ENST00000470937.1:n.117+3838A>T
ENST00000482024.1:n.413A>T
ENST00000620633.4:c.562A>T ENSP00000482660.1:p.Ile188Phe
NM_000321.2:c.1695+30419T>A , LRG_517t1:c.1695+30419T>A (RB1) NP_000312.2:p.=
NM_001162497.1:c.562A>T (LPAR6) VV NP_001155969.1:p.Ile188Phe
NM_001162498.1:c.562A>T (LPAR6) VV NP_001155970.1:p.Ile188Phe
NM_005767.5:c.562A>T (LPAR6) VV NP_005758.2:p.Ile188Phe
XM_011535171.1:c.1434+30419T>A (RB1) XP_011533473.1:p.=
XM_011535171.2:c.1434+30419T>A (RB1)
XM_024449302.1:c.562A>T (LPAR6) XP_024305070.1:p.Ile188Phe
XM_024449303.1:c.192+3838A>T (LPAR6) XP_024305071.1:p.=
XM_024449304.1:c.192+3838A>T (LPAR6) XP_024305072.1:p.=