Canonical Allele Identifier: CA993515920

Linked Data

dbSNP Id: rs1198787723

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132542C>T , CM000681.2:g.11132542C>T GRCh38
NC_000019.9:g.11243218C>T , CM000681.1:g.11243218C>T GRCh37
NC_000019.8:g.11104218C>T NCBI36
NG_009060.1:g.48162C>T , LRG_274:g.48162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1226C>T (LDLR) ENSP00000252444.6:n.*1226C>T
ENST00000559340.2:c.*1878C>T (LDLR) ENSP00000453696.2:n.*1878C>T
ENST00000560467.2:c.*1226C>T (LDLR) ENSP00000453513.2:n.*1226C>T
ENST00000558518.6:c.*1226C>T (LDLR) MANE Select ENSP00000454071.1:n.*1226C>T
ENST00000252444.9:c.4063C>T (LDLR)
ENST00000560628.1:n.109-553C>T (LDLR)
ENST00000585567.5:c.540-935G>A (SPC24) ENSP00000468818.1:n.540-935G>A
NM_000527.4:c.*1226C>T , LRG_274t1:c.*1226C>T (LDLR) NP_000518.1:n.*1226C>T
NM_001195798.1:c.*1226C>T (LDLR) NP_001182727.1:n.*1226C>T
NM_001195799.1:c.*1226C>T (LDLR) NP_001182728.1:n.*1226C>T
NM_001195800.1:c.*1226C>T (LDLR) NP_001182729.1:n.*1226C>T
NM_001195803.1:c.*1226C>T (LDLR) NP_001182732.1:n.*1226C>T
XM_011528010.1:c.*1226C>T (LDLR) XP_011526312.1:n.*1226C>T
XM_011528011.1:c.*1226C>T (LDLR) XP_011526313.1:n.*1226C>T
XM_011528010.2:c.*1226C>T (LDLR) XP_011526312.1:n.*1226C>T
XR_001753685.2:n.4143C>T (LDLR)
XR_001753686.2:n.3786C>T (LDLR)
NM_000527.5:c.*1226C>T (LDLR) MANE Select NP_000518.1:n.*1226C>T
NM_001195798.2:c.*1226C>T (LDLR) NP_001182727.1:n.*1226C>T
NM_001195799.2:c.*1226C>T (LDLR) NP_001182728.1:n.*1226C>T
NM_001195800.2:c.*1226C>T (LDLR) NP_001182729.1:n.*1226C>T
NM_001195803.2:c.*1226C>T (LDLR) NP_001182732.1:n.*1226C>T