Canonical Allele Identifier: CA249293297

Linked Data

dbSNP Id: rs2854344

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48423557G>A , CM000675.2:g.48423557G>A GRCh38
NC_000013.10:g.48997693G>A , CM000675.1:g.48997693G>A GRCh37
NC_000013.9:g.47895694G>A NCBI36
NG_009009.1:g.124811G>A , LRG_517:g.124811G>A
NG_012874.1:g.26148C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1696-29436G>A MANE Select ENSP00000267163.4:p.=
ENST00000650461.1:c.1696-29436G>A ENSP00000497193.1:p.=
ENST00000267163.4:c.1696-29436G>A ENSP00000267163.4:p.=
ENST00000345941.2:c.-1094-767C>T ENSP00000344353.2:p.=
ENST00000378434.8:c.-1347+436C>T ENSP00000367691.3:p.=
NM_000321.2:c.1696-29436G>A , LRG_517t1:c.1696-29436G>A (RB1) NP_000312.2:p.=
NM_001162497.1:c.-1094-767C>T (LPAR6) NP_001155969.1:p.=
NM_005767.5:c.-1347+436C>T (LPAR6) NP_005758.2:p.=
XM_011535171.1:c.1435-29436G>A (RB1) XP_011533473.1:p.=
XM_011535171.2:c.1435-29436G>A (RB1) XP_011533473.1:p.=
NM_001162497.2:c.-1094-767C>T (LPAR6) NP_001155969.1:p.=
NM_001377316.1:c.-1094-767C>T (LPAR6) NP_001364245.1:p.=
NM_001377317.1:c.-1094-767C>T (LPAR6) NP_001364246.1:p.=
NM_005767.6:c.-1347+436C>T (LPAR6) NP_005758.2:p.=
NM_000321.3:c.1696-29436G>A (RB1) MANE Select NP_000312.2:p.=
NM_001162497.3:c.-1094-767C>T (LPAR6) NP_001155969.1:p.=
NM_001377316.2:c.-1094-767C>T (LPAR6) NP_001364245.1:p.=
NM_001377317.2:c.-1094-767C>T (LPAR6) NP_001364246.1:p.=
NM_005767.7:c.-1347+436C>T (LPAR6) NP_005758.2:p.=