Canonical Allele Identifier: CA1638538
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 336154
ClinVar RCV Id: RCV000368192
dbSNP Id: rs779873239

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43945400G>A , CM000664.2:g.43945400G>A GRCh38
NC_000002.11:g.44172539G>A , CM000664.1:g.44172539G>A GRCh37
NC_000002.10:g.44026043G>A NCBI36
NG_008247.1:g.55606C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260665.12:c.2228C>T MANE Select ENSP00000260665.7:p.Ser743Phe
ENST00000260665.11:c.2228C>T ENSP00000260665.7:p.Ser743Phe
NM_133259.3:c.2228C>T NP_573566.2:p.Ser743Phe
XM_006711915.2:c.2150C>T XP_006711978.1:p.Ser717Phe
XM_006711916.2:c.2228C>T XP_006711979.1:p.Ser743Phe
XM_011532473.1:c.2228C>T XP_011530775.1:p.Ser743Phe
XM_011532474.1:c.2228C>T XP_011530776.1:p.Ser743Phe
XM_006711916.3:c.2228C>T XP_006711979.1:p.Ser743Phe
XM_017003117.1:c.2150C>T XP_016858606.1:p.Ser717Phe
XR_002958896.1:n.2270C>T
NM_133259.4:c.2228C>T MANE Select NP_573566.2:p.Ser743Phe