Canonical Allele Identifier: CA7122843

Gene: NRL

Linked Data

• ClinVar Variation Id: 3001276
• ClinVar RCV Id: RCV003852419
• dbSNP Id: rs761270634
• ExAC: 14:24550776 A / G
• gnomAD v2: 14-24550776-A-G
• gnomAD v4: 14-24081567-A-G
• MyVariant Identifiers: chr14:g.24550776A>G (hg19) ; chr14:g.24081567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081567A>G , CM000676.2:g.24081567A>G	GRCh38
NC_000014.8:g.24550776A>G , CM000676.1:g.24550776A>G	GRCh37
NC_000014.7:g.23620616A>G	NCBI36
NG_011697.1:g.8057T>C
NG_011697.2:g.38448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.383T>C MANE Select	ENSP00000454062.2:p.Leu128Pro
ENST00000396995.1:c.-35T>C	ENSP00000380191.1:n.-35T>C
ENST00000396997.1:c.383T>C	ENSP00000380193.1:p.Leu128Pro
ENST00000397002.6:c.383T>C	ENSP00000380197.2:p.Leu128Pro
ENST00000560550.1:c.-35T>C	ENSP00000452966.1:n.-35T>C
ENST00000561028.5:c.383T>C	ENSP00000454062.1:p.Leu128Pro
NM_006177.3:c.383T>C	NP_006168.1:p.Leu128Pro
XM_005267708.3:c.383T>C	XP_005267765.1:p.Leu128Pro
XM_005267709.3:c.383T>C	XP_005267766.1:p.Leu128Pro
XM_005267710.3:c.383T>C	XP_005267767.1:p.Leu128Pro
XM_011536801.1:c.482T>C	XP_011535103.1:p.Leu161Pro
XM_011536802.1:c.383T>C	XP_011535104.1:p.Leu128Pro
XM_011536803.1:c.383T>C	XP_011535105.1:p.Leu128Pro
XM_011536804.1:c.383T>C	XP_011535106.1:p.Leu128Pro
XM_011536805.1:c.383T>C	XP_011535107.1:p.Leu128Pro
XM_011536806.1:c.167T>C	XP_011535108.1:p.Leu56Pro
NM_001354768.1:c.383T>C	NP_001341697.1:p.Leu128Pro
NM_001354769.1:c.383T>C	NP_001341698.1:p.Leu128Pro
NM_001354770.1:c.68T>C	NP_001341699.1:p.Leu23Pro
NM_006177.4:c.383T>C	NP_006168.1:p.Leu128Pro
XM_011536801.2:c.689T>C	XP_011535103.2:p.Leu230Pro
XM_011536804.2:c.383T>C	XP_011535106.1:p.Leu128Pro
XM_011536805.2:c.383T>C	XP_011535107.1:p.Leu128Pro
XM_011536806.2:c.374T>C	XP_011535108.2:p.Leu125Pro
NM_001354768.3:c.383T>C MANE Select	NP_001341697.1:p.Leu128Pro
NM_001354770.2:c.68T>C	NP_001341699.1:p.Leu23Pro
NM_006177.5:c.383T>C	NP_006168.1:p.Leu128Pro