Canonical Allele Identifier: CA2728069539

Linked Data

dbSNP Id: rs2138252339

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48423515A>T , CM000675.2:g.48423515A>T GRCh38
NC_000013.10:g.48997651A>T , CM000675.1:g.48997651A>T GRCh37
NC_000013.9:g.47895652A>T NCBI36
NG_009009.1:g.124769A>T , LRG_517:g.124769A>T
NG_012874.1:g.26190T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1696-29478A>T (RB1) MANE Select ENSP00000267163.4:n.1696-29478A>T
ENST00000643064.1:c.194+42072A>T (RB1)
ENST00000650461.1:c.1696-29478A>T (RB1) ENSP00000497193.1:n.1696-29478A>T
ENST00000267163.4:c.1696-29478A>T (RB1) ENSP00000267163.4:n.1696-29478A>T
ENST00000345941.2:c.-1094-725T>A (LPAR6) ENSP00000344353.2:n.-1094-725T>A
ENST00000378434.8:c.-1347+478T>A (LPAR6) ENSP00000367691.3:n.-1347+478T>A
ENST00000465365.6:n.662+478T>A (LPAR6)
NM_000321.2:c.1696-29478A>T , LRG_517t1:c.1696-29478A>T (RB1) NP_000312.2:n.1696-29478A>T
NM_001162497.1:c.-1094-725T>A (LPAR6) NP_001155969.1:n.-1094-725T>A
NM_005767.5:c.-1347+478T>A (LPAR6) NP_005758.2:n.-1347+478T>A
XM_011535171.1:c.1435-29478A>T (RB1) XP_011533473.1:n.1435-29478A>T
XM_011535171.2:c.1435-29478A>T (RB1) XP_011533473.1:n.1435-29478A>T
NM_001162497.2:c.-1094-725T>A (LPAR6) NP_001155969.1:n.-1094-725T>A
NM_001377316.1:c.-1094-725T>A (LPAR6) NP_001364245.1:n.-1094-725T>A
NM_001377317.1:c.-1094-725T>A (LPAR6) NP_001364246.1:n.-1094-725T>A
NM_005767.6:c.-1347+478T>A (LPAR6) NP_005758.2:n.-1347+478T>A
NM_000321.3:c.1696-29478A>T (RB1) MANE Select NP_000312.2:n.1696-29478A>T
NM_001162497.3:c.-1094-725T>A (LPAR6) NP_001155969.1:n.-1094-725T>A
NM_001377316.2:c.-1094-725T>A (LPAR6) NP_001364245.1:n.-1094-725T>A
NM_001377317.2:c.-1094-725T>A (LPAR6) NP_001364246.1:n.-1094-725T>A
NM_005767.7:c.-1347+478T>A (LPAR6) NP_005758.2:n.-1347+478T>A