Canonical Allele Identifier: CA272521

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 159944
• ClinVar RCV Id: RCV000147554
• dbSNP Id: rs587784406
• MyVariant Identifiers: chrX:g.53432582A>G (hg19) ; chrX:g.53405650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405650A>G , CM000685.2:g.53405650A>G	GRCh38
NC_000023.10:g.53432582A>G , CM000685.1:g.53432582A>G	GRCh37
NC_000023.9:g.53449307A>G	NCBI36
NG_006988.2:g.22021T>C , LRG_773:g.22021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1754T>C MANE Select	ENSP00000323421.3:p.Leu585Pro
ENST00000674590.1:c.986T>C	ENSP00000502626.1:p.Leu329Pro
ENST00000675065.1:n.1106T>C
ENST00000675504.1:c.1688T>C	ENSP00000502524.1:p.Leu563Pro
ENST00000322213.8:c.1754T>C	ENSP00000323421.3:p.Leu585Pro
ENST00000375340.10:c.1688T>C	ENSP00000364489.7:p.Leu563Pro
NM_001281463.1:c.1688T>C , LRG_773t1:c.1688T>C	NP_001268392.1:p.Leu563Pro
NM_006306.3:c.1754T>C , LRG_773t2:c.1754T>C	NP_006297.2:p.Leu585Pro
NM_006306.4:c.1754T>C MANE Select	NP_006297.2:p.Leu585Pro