Canonical Allele Identifier: CA2838269171

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382372dup , CM000685.2:g.53382372dup	GRCh38
NC_000023.10:g.53409293dup , CM000685.1:g.53409293dup	GRCh37
NC_000023.9:g.53426018dup	NCBI36
NG_006988.2:g.45301dup , LRG_773:g.45301dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3299dup MANE Select	ENSP00000323421.3:p.Glu1101Ter
ENST00000674590.1:c.2531dup	ENSP00000502626.1:p.Glu845Ter
ENST00000675504.1:c.3233dup	ENSP00000502524.1:p.Glu1079Ter
ENST00000322213.8:c.3299dup	ENSP00000323421.3:p.Glu1101Ter
ENST00000375340.10:c.3233dup	ENSP00000364489.7:p.Glu1079Ter
ENST00000469129.1:n.155dup
ENST00000470241.2:c.589dup
NM_001281463.1:c.3233dup , LRG_773t1:c.3233dup	NP_001268392.1:p.Glu1079Ter
NM_006306.3:c.3299dup , LRG_773t2:c.3299dup	NP_006297.2:p.Glu1101Ter
NM_006306.4:c.3299dup MANE Select	NP_006297.2:p.Glu1101Ter