Canonical Allele Identifier: CA5950091

Gene: RAG1

Linked Data

• ClinVar Variation Id: 469110
• ClinVar RCV Id: RCV000552443 ; RCV001105308 ; RCV001105309
• dbSNP Id: rs753165042
• ExAC: 11:36595914 C / A
• gnomAD v2: 11-36595914-C-A
• gnomAD v3: 11-36574364-C-A
• gnomAD v4: 11-36574364-C-A
• MyVariant Identifiers: chr11:g.36595914C>A (hg19) ; chr11:g.36574364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36574364C>A , CM000673.2:g.36574364C>A	GRCh38
NC_000011.9:g.36595914C>A , CM000673.1:g.36595914C>A	GRCh37
NC_000011.8:g.36552490C>A	NCBI36
NG_007528.1:g.11352C>A , LRG_98:g.11352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.1060C>A	ENSP00000513411.1:p.Leu354Met
ENST00000697714.1:c.1060C>A	ENSP00000513412.1:p.Leu354Met
ENST00000697715.1:c.1060C>A	ENSP00000513413.1:p.Leu354Met
ENST00000299440.6:c.1060C>A MANE Select	ENSP00000299440.5:p.Leu354Met
ENST00000299440.5:c.1060C>A	ENSP00000299440.5:p.Leu354Met
ENST00000534663.1:c.1060C>A	ENSP00000434610.1:p.Leu354Met
NM_000448.2:c.1060C>A , LRG_98t1:c.1060C>A	NP_000439.1:p.Leu354Met
XM_005253041.3:c.1060C>A	XP_005253098.1:p.Leu354Met
XM_011520250.1:c.1060C>A	XP_011518552.1:p.Leu354Met
XM_011520251.1:c.1060C>A	XP_011518553.1:p.Leu354Met
XM_005253041.4:c.1060C>A	XP_005253098.1:p.Leu354Met
XM_011520250.2:c.1060C>A	XP_011518552.1:p.Leu354Met
NM_000448.3:c.1060C>A MANE Select	NP_000439.2:p.Leu354Met
NM_001377277.1:c.1060C>A	NP_001364206.1:p.Leu354Met
NM_001377278.1:c.1060C>A	NP_001364207.1:p.Leu354Met
NM_001377279.1:c.1060C>A	NP_001364208.1:p.Leu354Met
NM_001377280.1:c.1060C>A	NP_001364209.1:p.Leu354Met