Canonical Allele Identifier: CA2839268415

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405548dup , CM000685.2:g.53405548dup	GRCh38
NC_000023.10:g.53432480dup , CM000685.1:g.53432480dup	GRCh37
NC_000023.9:g.53449205dup	NCBI36
NG_006988.2:g.22123dup , LRG_773:g.22123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1856dup MANE Select	ENSP00000323421.3:p.Cys619TrpfsTer2
ENST00000674590.1:c.1088dup	ENSP00000502626.1:p.Cys363TrpfsTer2
ENST00000675065.1:n.1208dup
ENST00000675504.1:c.1790dup	ENSP00000502524.1:p.Cys597TrpfsTer2
ENST00000322213.8:c.1856dup	ENSP00000323421.3:p.Cys619TrpfsTer2
ENST00000375340.10:c.1790dup	ENSP00000364489.7:p.Cys597TrpfsTer2
NM_001281463.1:c.1790dup , LRG_773t1:c.1790dup	NP_001268392.1:p.Cys597TrpfsTer2
NM_006306.3:c.1856dup , LRG_773t2:c.1856dup	NP_006297.2:p.Cys619TrpfsTer2
NM_006306.4:c.1856dup MANE Select	NP_006297.2:p.Cys619TrpfsTer2