Canonical Allele Identifier: CA389277444

Gene: NRL

Linked Data

• dbSNP Id: rs1160961116
• gnomAD v2: 14-24550599-A-G
• gnomAD v3: 14-24081390-A-G
• gnomAD v4: 14-24081390-A-G
• MyVariant Identifiers: chr14:g.24550599A>G (hg19) ; chr14:g.24081390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081390A>G , CM000676.2:g.24081390A>G	GRCh38
NC_000014.8:g.24550599A>G , CM000676.1:g.24550599A>G	GRCh37
NC_000014.7:g.23620439A>G	NCBI36
NG_011697.1:g.8234T>C
NG_011697.2:g.38625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.560T>C MANE Select	ENSP00000454062.2:p.Leu187Pro
ENST00000396995.1:c.143T>C	ENSP00000380191.1:p.Leu48Pro
ENST00000396997.1:c.560T>C	ENSP00000380193.1:p.Leu187Pro
ENST00000397002.6:c.560T>C	ENSP00000380197.2:p.Leu187Pro
ENST00000560550.1:c.143T>C	ENSP00000452966.1:p.Leu48Pro
ENST00000561028.5:c.560T>C	ENSP00000454062.1:p.Leu187Pro
NM_006177.3:c.560T>C	NP_006168.1:p.Leu187Pro
XM_005267708.3:c.560T>C	XP_005267765.1:p.Leu187Pro
XM_005267709.3:c.560T>C	XP_005267766.1:p.Leu187Pro
XM_005267710.3:c.560T>C	XP_005267767.1:p.Leu187Pro
XM_011536801.1:c.659T>C	XP_011535103.1:p.Leu220Pro
XM_011536802.1:c.560T>C	XP_011535104.1:p.Leu187Pro
XM_011536803.1:c.560T>C	XP_011535105.1:p.Leu187Pro
XM_011536804.1:c.560T>C	XP_011535106.1:p.Leu187Pro
XM_011536805.1:c.560T>C	XP_011535107.1:p.Leu187Pro
XM_011536806.1:c.344T>C	XP_011535108.1:p.Leu115Pro
NM_001354768.1:c.560T>C	NP_001341697.1:p.Leu187Pro
NM_001354769.1:c.560T>C	NP_001341698.1:p.Leu187Pro
NM_001354770.1:c.245T>C	NP_001341699.1:p.Leu82Pro
NM_006177.4:c.560T>C	NP_006168.1:p.Leu187Pro
XM_011536801.2:c.866T>C	XP_011535103.2:p.Leu289Pro
XM_011536804.2:c.560T>C	XP_011535106.1:p.Leu187Pro
XM_011536805.2:c.560T>C	XP_011535107.1:p.Leu187Pro
XM_011536806.2:c.551T>C	XP_011535108.2:p.Leu184Pro
NM_001354768.3:c.560T>C MANE Select	NP_001341697.1:p.Leu187Pro
NM_001354770.2:c.245T>C	NP_001341699.1:p.Leu82Pro
NM_006177.5:c.560T>C	NP_006168.1:p.Leu187Pro