Canonical Allele Identifier: CA123731
Gene: NRL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14044
ClinVar RCV Id: RCV000015088
dbSNP Id: rs104894463

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24081471A>G , CM000676.2:g.24081471A>G GRCh38
NC_000014.8:g.24550680A>G , CM000676.1:g.24550680A>G GRCh37
NC_000014.7:g.23620520A>G NCBI36
NG_011697.1:g.8153T>C
NG_011697.2:g.38544T>C

Transcript Alleles

HGVS Amino-acid change
NM_006177.3:c.479T>C VV NP_006168.1:p.Leu160Pro
XM_005267708.3:c.479T>C XP_005267765.1:p.Leu160Pro
XM_005267709.3:c.479T>C XP_005267766.1:p.Leu160Pro
XM_005267710.3:c.479T>C XP_005267767.1:p.Leu160Pro
XM_011536801.1:c.578T>C XP_011535103.1:p.Leu193Pro
XM_011536802.1:c.479T>C XP_011535104.1:p.Leu160Pro
XM_011536803.1:c.479T>C XP_011535105.1:p.Leu160Pro
XM_011536804.1:c.479T>C XP_011535106.1:p.Leu160Pro
XM_011536805.1:c.479T>C XP_011535107.1:p.Leu160Pro
XM_011536806.1:c.263T>C XP_011535108.1:p.Leu88Pro
NM_001354768.1:c.479T>C VV NP_001341697.1:p.Leu160Pro
NM_001354769.1:c.479T>C VV NP_001341698.1:p.Leu160Pro
NM_001354770.1:c.164T>C VV NP_001341699.1:p.Leu55Pro
NM_006177.4:c.479T>C VV NP_006168.1:p.Leu160Pro
XM_011536801.2:c.785T>C XP_011535103.2:p.Leu262Pro
XM_011536804.2:c.479T>C XP_011535106.1:p.Leu160Pro
XM_011536805.2:c.479T>C XP_011535107.1:p.Leu160Pro
XM_011536806.2:c.470T>C XP_011535108.2:p.Leu157Pro
ENST00000396995.1:c.62T>C ENSP00000380191.1:p.Leu21Pro
ENST00000396997.1:c.479T>C ENSP00000380193.1:p.Leu160Pro
ENST00000397002.6:c.479T>C ENSP00000380197.2:p.Leu160Pro
ENST00000560550.1:c.62T>C ENSP00000452966.1:p.Leu21Pro
ENST00000561028.5:c.479T>C ENSP00000454062.1:p.Leu160Pro