Canonical Allele Identifier: CA389279088

Gene: NRL

Linked Data

• ClinVar Variation Id: 2179792
• ClinVar RCV Id: RCV002599322
• dbSNP Id: rs994926351
• gnomAD v2: 14-24550767-C-G
• gnomAD v4: 14-24081558-C-G
• MyVariant Identifiers: chr14:g.24550767C>G (hg19) ; chr14:g.24081558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081558C>G , CM000676.2:g.24081558C>G	GRCh38
NC_000014.8:g.24550767C>G , CM000676.1:g.24550767C>G	GRCh37
NC_000014.7:g.23620607C>G	NCBI36
NG_011697.1:g.8066G>C
NG_011697.2:g.38457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.392G>C MANE Select	ENSP00000454062.2:p.Arg131Pro
ENST00000396995.1:c.-26G>C	ENSP00000380191.1:n.-26G>C
ENST00000396997.1:c.392G>C	ENSP00000380193.1:p.Arg131Pro
ENST00000397002.6:c.392G>C	ENSP00000380197.2:p.Arg131Pro
ENST00000560550.1:c.-26G>C	ENSP00000452966.1:n.-26G>C
ENST00000561028.5:c.392G>C	ENSP00000454062.1:p.Arg131Pro
NM_006177.3:c.392G>C	NP_006168.1:p.Arg131Pro
XM_005267708.3:c.392G>C	XP_005267765.1:p.Arg131Pro
XM_005267709.3:c.392G>C	XP_005267766.1:p.Arg131Pro
XM_005267710.3:c.392G>C	XP_005267767.1:p.Arg131Pro
XM_011536801.1:c.491G>C	XP_011535103.1:p.Arg164Pro
XM_011536802.1:c.392G>C	XP_011535104.1:p.Arg131Pro
XM_011536803.1:c.392G>C	XP_011535105.1:p.Arg131Pro
XM_011536804.1:c.392G>C	XP_011535106.1:p.Arg131Pro
XM_011536805.1:c.392G>C	XP_011535107.1:p.Arg131Pro
XM_011536806.1:c.176G>C	XP_011535108.1:p.Arg59Pro
NM_001354768.1:c.392G>C	NP_001341697.1:p.Arg131Pro
NM_001354769.1:c.392G>C	NP_001341698.1:p.Arg131Pro
NM_001354770.1:c.77G>C	NP_001341699.1:p.Arg26Pro
NM_006177.4:c.392G>C	NP_006168.1:p.Arg131Pro
XM_011536801.2:c.698G>C	XP_011535103.2:p.Arg233Pro
XM_011536804.2:c.392G>C	XP_011535106.1:p.Arg131Pro
XM_011536805.2:c.392G>C	XP_011535107.1:p.Arg131Pro
XM_011536806.2:c.383G>C	XP_011535108.2:p.Arg128Pro
NM_001354768.3:c.392G>C MANE Select	NP_001341697.1:p.Arg131Pro
NM_001354770.2:c.77G>C	NP_001341699.1:p.Arg26Pro
NM_006177.5:c.392G>C	NP_006168.1:p.Arg131Pro