Canonical Allele Identifier: CA916082488

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 855426
• ClinVar RCV Id: RCV001060696
• dbSNP Id: rs2075587887

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382542dup , CM000685.2:g.53382542dup	GRCh38
NC_000023.10:g.53409463dup , CM000685.1:g.53409463dup	GRCh37
NC_000023.9:g.53426188dup	NCBI36
NG_006988.2:g.45129dup , LRG_773:g.45129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3249dup MANE Select	ENSP00000323421.3:p.Ile1084AspfsTer3
ENST00000674590.1:c.2481dup	ENSP00000502626.1:p.Ile828AspfsTer3
ENST00000675504.1:c.3183dup	ENSP00000502524.1:p.Ile1062AspfsTer3
ENST00000322213.8:c.3249dup	ENSP00000323421.3:p.Ile1084AspfsTer3
ENST00000375340.10:c.3183dup	ENSP00000364489.7:p.Ile1062AspfsTer3
ENST00000469129.1:n.105dup
ENST00000470241.2:c.539dup
NM_001281463.1:c.3183dup , LRG_773t1:c.3183dup	NP_001268392.1:p.Ile1062AspfsTer3
NM_006306.3:c.3249dup , LRG_773t2:c.3249dup	NP_006297.2:p.Ile1084AspfsTer3
NM_006306.4:c.3249dup MANE Select	NP_006297.2:p.Ile1084AspfsTer3