Canonical Allele Identifier: CA404092960

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2568140
• ClinVar RCV Id: RCV003297560
• MyVariant Identifiers: chr19:g.11230847T>G (hg19) ; chr19:g.11120171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120171T>G , CM000681.2:g.11120171T>G	GRCh38
NC_000019.9:g.11230847T>G , CM000681.1:g.11230847T>G	GRCh37
NC_000019.8:g.11091847T>G	NCBI36
NG_009060.1:g.35791T>G , LRG_274:g.35791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2183T>G	ENSP00000252444.6:p.Leu728Trp
ENST00000559340.2:c.1785T>G	ENSP00000453696.2:p.Val595=
ENST00000560467.2:c.1805T>G	ENSP00000453513.2:p.Leu602Trp
ENST00000558518.6:c.1925T>G MANE Select	ENSP00000454071.1:p.Leu642Trp
ENST00000252444.9:c.2179T>G
ENST00000455727.6:c.1421T>G	ENSP00000397829.2:p.Leu474Trp
ENST00000535915.5:c.1802T>G	ENSP00000440520.1:p.Leu601Trp
ENST00000545707.5:c.1544T>G	ENSP00000437639.1:p.Leu515Trp
ENST00000557933.5:c.1925T>G	ENSP00000453557.1:p.Leu642Trp
ENST00000558013.5:c.1925T>G	ENSP00000453346.1:p.Leu642Trp
ENST00000558518.5:c.1925T>G	ENSP00000454071.1:p.Leu642Trp
ENST00000559340.1:c.506T>G
NM_000527.4:c.1925T>G , LRG_274t1:c.1925T>G	NP_000518.1:p.Leu642Trp
NM_001195798.1:c.1925T>G	NP_001182727.1:p.Leu642Trp
NM_001195799.1:c.1802T>G	NP_001182728.1:p.Leu601Trp
NM_001195800.1:c.1421T>G	NP_001182729.1:p.Leu474Trp
NM_001195803.1:c.1544T>G	NP_001182732.1:p.Leu515Trp
XM_011528010.1:c.1925T>G	XP_011526312.1:p.Leu642Trp
XM_011528011.1:c.1544T>G	XP_011526313.1:p.Leu515Trp
XR_244074.2:n.1935T>G
XM_011528010.2:c.1925T>G	XP_011526312.1:p.Leu642Trp
XR_001753685.2:n.2042T>G
XR_001753686.2:n.1902T>G
NM_000527.5:c.1925T>G MANE Select	NP_000518.1:p.Leu642Trp
NM_001195798.2:c.1925T>G	NP_001182727.1:p.Leu642Trp
NM_001195799.2:c.1802T>G	NP_001182728.1:p.Leu601Trp
NM_001195800.2:c.1421T>G	NP_001182729.1:p.Leu474Trp
NM_001195803.2:c.1544T>G	NP_001182732.1:p.Leu515Trp