Canonical Allele Identifier: CA404082645
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221351A>T (hg19) chr19:g.11110675A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110675A>T , CM000681.2:g.11110675A>T GRCh38
NC_000019.9:g.11221351A>T , CM000681.1:g.11221351A>T GRCh37
NC_000019.8:g.11082351A>T NCBI36
NG_009060.1:g.26295A>T , LRG_274:g.26295A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1222A>T ENSP00000252444.6:p.Asn408Tyr
ENST00000559340.2:c.964A>T ENSP00000453696.2:p.Asn322Tyr
ENST00000560467.2:c.941-839A>T ENSP00000453513.2:n.941-839A>T
ENST00000558518.6:c.964A>T MANE Select ENSP00000454071.1:p.Asn322Tyr
ENST00000252444.9:c.1218A>T
ENST00000455727.6:c.460A>T ENSP00000397829.2:p.Asn154Tyr
ENST00000535915.5:c.841A>T ENSP00000440520.1:p.Asn281Tyr
ENST00000545707.5:c.583A>T ENSP00000437639.1:p.Asn195Tyr
ENST00000557933.5:c.964A>T ENSP00000453557.1:p.Asn322Tyr
ENST00000558013.5:c.964A>T ENSP00000453346.1:p.Asn322Tyr
ENST00000558518.5:c.964A>T ENSP00000454071.1:p.Asn322Tyr
ENST00000560467.1:c.541-839A>T
NM_000527.4:c.964A>T , LRG_274t1:c.964A>T NP_000518.1:p.Asn322Tyr
NM_001195798.1:c.964A>T NP_001182727.1:p.Asn322Tyr
NM_001195799.1:c.841A>T NP_001182728.1:p.Asn281Tyr
NM_001195800.1:c.460A>T NP_001182729.1:p.Asn154Tyr
NM_001195803.1:c.583A>T NP_001182732.1:p.Asn195Tyr
XM_011528010.1:c.964A>T XP_011526312.1:p.Asn322Tyr
XM_011528011.1:c.583A>T XP_011526313.1:p.Asn195Tyr
XR_244074.2:n.1114A>T
XM_011528010.2:c.964A>T XP_011526312.1:p.Asn322Tyr
XR_001753685.2:n.1081A>T
XR_001753686.2:n.1081A>T
NM_000527.5:c.964A>T MANE Select NP_000518.1:p.Asn322Tyr
NM_001195798.2:c.964A>T NP_001182727.1:p.Asn322Tyr
NM_001195799.2:c.841A>T NP_001182728.1:p.Asn281Tyr
NM_001195800.2:c.460A>T NP_001182729.1:p.Asn154Tyr
NM_001195803.2:c.583A>T NP_001182732.1:p.Asn195Tyr
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