Canonical Allele Identifier: CA404083602

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923427
• ClinVar RCV Id: RCV001184127
• dbSNP Id: rs2077377185
• MyVariant Identifiers: chr19:g.11222256A>T (hg19) ; chr19:g.11111580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111580A>T , CM000681.2:g.11111580A>T	GRCh38
NC_000019.9:g.11222256A>T , CM000681.1:g.11222256A>T	GRCh37
NC_000019.8:g.11083256A>T	NCBI36
NG_009060.1:g.27200A>T , LRG_274:g.27200A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1385A>T	ENSP00000252444.6:p.Lys462Met
ENST00000559340.2:c.1127A>T	ENSP00000453696.2:p.Lys376Met
ENST00000560467.2:c.1007A>T	ENSP00000453513.2:p.Lys336Met
ENST00000558518.6:c.1127A>T MANE Select	ENSP00000454071.1:p.Lys376Met
ENST00000252444.9:c.1381A>T
ENST00000455727.6:c.623A>T	ENSP00000397829.2:p.Lys208Met
ENST00000535915.5:c.1004A>T	ENSP00000440520.1:p.Lys335Met
ENST00000545707.5:c.746A>T	ENSP00000437639.1:p.Lys249Met
ENST00000557933.5:c.1127A>T	ENSP00000453557.1:p.Lys376Met
ENST00000558013.5:c.1127A>T	ENSP00000453346.1:p.Lys376Met
ENST00000558518.5:c.1127A>T	ENSP00000454071.1:p.Lys376Met
ENST00000560173.1:n.126A>T
ENST00000560467.1:c.607A>T
NM_000527.4:c.1127A>T , LRG_274t1:c.1127A>T	NP_000518.1:p.Lys376Met
NM_001195798.1:c.1127A>T	NP_001182727.1:p.Lys376Met
NM_001195799.1:c.1004A>T	NP_001182728.1:p.Lys335Met
NM_001195800.1:c.623A>T	NP_001182729.1:p.Lys208Met
NM_001195803.1:c.746A>T	NP_001182732.1:p.Lys249Met
XM_011528010.1:c.1127A>T	XP_011526312.1:p.Lys376Met
XM_011528011.1:c.746A>T	XP_011526313.1:p.Lys249Met
XR_244074.2:n.1277A>T
XM_011528010.2:c.1127A>T	XP_011526312.1:p.Lys376Met
XR_001753685.2:n.1244A>T
XR_001753686.2:n.1244A>T
NM_000527.5:c.1127A>T MANE Select	NP_000518.1:p.Lys376Met
NM_001195798.2:c.1127A>T	NP_001182727.1:p.Lys376Met
NM_001195799.2:c.1004A>T	NP_001182728.1:p.Lys335Met
NM_001195800.2:c.623A>T	NP_001182729.1:p.Lys208Met
NM_001195803.2:c.746A>T	NP_001182732.1:p.Lys249Met