Canonical Allele Identifier: CA404084678

Gene: LDLR

Linked Data

• COSMIC: COSM4074076
• MyVariant Identifiers: chr19:g.11223968C>A (hg19) ; chr19:g.11113292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113292C>A , CM000681.2:g.11113292C>A	GRCh38
NC_000019.9:g.11223968C>A , CM000681.1:g.11223968C>A	GRCh37
NC_000019.8:g.11084968C>A	NCBI36
NG_009060.1:g.28912C>A , LRG_274:g.28912C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1459C>A	ENSP00000252444.6:p.Leu487Ile
ENST00000559340.2:c.1201C>A	ENSP00000453696.2:p.Leu401Ile
ENST00000560467.2:c.1081C>A	ENSP00000453513.2:p.Leu361Ile
ENST00000558518.6:c.1201C>A MANE Select	ENSP00000454071.1:p.Leu401Ile
ENST00000252444.9:c.1455C>A
ENST00000455727.6:c.697C>A	ENSP00000397829.2:p.Leu233Ile
ENST00000535915.5:c.1078C>A	ENSP00000440520.1:p.Leu360Ile
ENST00000545707.5:c.820C>A	ENSP00000437639.1:p.Leu274Ile
ENST00000557933.5:c.1201C>A	ENSP00000453557.1:p.Leu401Ile
ENST00000558013.5:c.1201C>A	ENSP00000453346.1:p.Leu401Ile
ENST00000558518.5:c.1201C>A	ENSP00000454071.1:p.Leu401Ile
ENST00000560173.1:n.200C>A
ENST00000560467.1:c.681C>A
NM_000527.4:c.1201C>A , LRG_274t1:c.1201C>A	NP_000518.1:p.Leu401Ile
NM_001195798.1:c.1201C>A	NP_001182727.1:p.Leu401Ile
NM_001195799.1:c.1078C>A	NP_001182728.1:p.Leu360Ile
NM_001195800.1:c.697C>A	NP_001182729.1:p.Leu233Ile
NM_001195803.1:c.820C>A	NP_001182732.1:p.Leu274Ile
XM_011528010.1:c.1201C>A	XP_011526312.1:p.Leu401Ile
XM_011528011.1:c.820C>A	XP_011526313.1:p.Leu274Ile
XR_244074.2:n.1351C>A
XM_011528010.2:c.1201C>A	XP_011526312.1:p.Leu401Ile
XR_001753685.2:n.1318C>A
XR_001753686.2:n.1318C>A
NM_000527.5:c.1201C>A MANE Select	NP_000518.1:p.Leu401Ile
NM_001195798.2:c.1201C>A	NP_001182727.1:p.Leu401Ile
NM_001195799.2:c.1078C>A	NP_001182728.1:p.Leu360Ile
NM_001195800.2:c.697C>A	NP_001182729.1:p.Leu233Ile
NM_001195803.2:c.820C>A	NP_001182732.1:p.Leu274Ile