Canonical Allele Identifier: CA324474
Gene: LRPPRC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 214617
ClinVar RCV Id: RCV000199926
dbSNP Id: rs863224058

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899235G>A , CM000664.2:g.43899235G>A GRCh38
NC_000002.11:g.44126374G>A , CM000664.1:g.44126374G>A GRCh37
NC_000002.10:g.43979878G>A NCBI36
NG_008247.1:g.101771C>T

Transcript Alleles

HGVS Amino-acid change
NM_133259.3:c.3809C>T VV NP_573566.2:p.Ala1270Val
XM_006711915.2:c.3731C>T XP_006711978.1:p.Ala1244Val
XM_011532473.1:c.3809C>T XP_011530775.1:p.Ala1270Val
XM_011532474.1:c.3809C>T XP_011530776.1:p.Ala1270Val
XM_017003117.1:c.3731C>T XP_016858606.1:p.Ala1244Val
XR_002958896.1:n.3851C>T
NM_133259.4:c.3809C>T VV MANE Preferred NP_573566.2:p.Ala1270Val
ENST00000260665.11:c.3809C>T ENSP00000260665.7:p.Ala1270Val
ENST00000419884.5:n.50C>T ENSP00000414207.1:p.Ala17Val
ENST00000463456.5:n.2852C>T
ENST00000472420.5:n.206C>T
ENST00000483489.1:n.283C>T