Canonical Allele Identifier: CA2582473068

Gene: LDLR

Linked Data

• gnomAD v4: 19-11104037-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11104037C>T , CM000681.2:g.11104037C>T	GRCh38
NC_000019.9:g.11214713C>T , CM000681.1:g.11214713C>T	GRCh37
NC_000019.8:g.11075713C>T	NCBI36
NG_009060.1:g.19657C>T , LRG_274:g.19657C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.572-1183C>T	ENSP00000252444.6:n.572-1183C>T
ENST00000559340.2:c.314-1183C>T	ENSP00000453696.2:n.314-1183C>T
ENST00000560467.2:c.314-1183C>T	ENSP00000453513.2:n.314-1183C>T
ENST00000558518.6:c.314-1183C>T MANE Select	ENSP00000454071.1:n.314-1183C>T
ENST00000252444.9:c.568-1183C>T
ENST00000455727.6:c.313+1251C>T	ENSP00000397829.2:n.313+1251C>T
ENST00000535915.5:c.191-1183C>T	ENSP00000440520.1:n.191-1183C>T
ENST00000545707.5:c.313+1251C>T	ENSP00000437639.1:n.313+1251C>T
ENST00000557933.5:c.314-1183C>T	ENSP00000453557.1:n.314-1183C>T
ENST00000557958.1:n.1650C>T
ENST00000558013.5:c.314-1183C>T	ENSP00000453346.1:n.314-1183C>T
ENST00000558518.5:c.314-1183C>T	ENSP00000454071.1:n.314-1183C>T
NM_000527.4:c.314-1183C>T , LRG_274t1:c.314-1183C>T	NP_000518.1:n.314-1183C>T
NM_001195798.1:c.314-1183C>T	NP_001182727.1:n.314-1183C>T
NM_001195799.1:c.191-1183C>T	NP_001182728.1:n.191-1183C>T
NM_001195800.1:c.313+1251C>T	NP_001182729.1:n.313+1251C>T
NM_001195803.1:c.313+1251C>T	NP_001182732.1:n.313+1251C>T
XM_011528010.1:c.314-1183C>T	XP_011526312.1:n.314-1183C>T
XM_011528011.1:c.313+1251C>T	XP_011526313.1:n.313+1251C>T
XR_244074.2:n.464-1183C>T
XM_011528010.2:c.314-1183C>T	XP_011526312.1:n.314-1183C>T
XR_001753685.2:n.431-1183C>T
XR_001753686.2:n.431-1183C>T
NM_000527.5:c.314-1183C>T MANE Select	NP_000518.1:n.314-1183C>T
NM_001195798.2:c.314-1183C>T	NP_001182727.1:n.314-1183C>T
NM_001195799.2:c.191-1183C>T	NP_001182728.1:n.191-1183C>T
NM_001195800.2:c.313+1251C>T	NP_001182729.1:n.313+1251C>T
NM_001195803.2:c.313+1251C>T	NP_001182732.1:n.313+1251C>T