Canonical Allele Identifier: CA272583

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 159959
• ClinVar RCV Id: RCV000147569
• dbSNP Id: rs587784420
• COSMIC: COSM4589480 ; COSM4589481
• MyVariant Identifiers: chrX:g.53440376C>T (hg19) ; chrX:g.53413426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413426C>T , CM000685.2:g.53413426C>T	GRCh38
NC_000023.10:g.53440376C>T , CM000685.1:g.53440376C>T	GRCh37
NC_000023.9:g.53457101C>T	NCBI36
NG_006988.2:g.14245G>A , LRG_773:g.14245G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.421G>A MANE Select	ENSP00000323421.3:p.Glu141Lys
ENST00000674590.1:c.345+1332G>A	ENSP00000502626.1:n.345+1332G>A
ENST00000675065.1:n.465+1332G>A
ENST00000675504.1:c.355G>A	ENSP00000502524.1:p.Glu119Lys
ENST00000322213.8:c.421G>A	ENSP00000323421.3:p.Glu141Lys
ENST00000375340.10:c.355G>A	ENSP00000364489.7:p.Glu119Lys
ENST00000428014.1:c.355G>A	ENSP00000413509.2:p.Glu119Lys
ENST00000463684.1:c.119G>A	ENSP00000476958.1:p.Gly40Glu
NM_001281463.1:c.355G>A , LRG_773t1:c.355G>A	NP_001268392.1:p.Glu119Lys
NM_006306.3:c.421G>A , LRG_773t2:c.421G>A	NP_006297.2:p.Glu141Lys
NM_006306.4:c.421G>A MANE Select	NP_006297.2:p.Glu141Lys