Canonical Allele Identifier: CA413241853

Gene: SMC1A

Linked Data

• gnomAD v4: X-53380640-G-T
• COSMIC: COSM1123022
• MyVariant Identifiers: chrX:g.53407561G>T (hg19) ; chrX:g.53380640G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380640G>T , CM000685.2:g.53380640G>T	GRCh38
NC_000023.10:g.53407561G>T , CM000685.1:g.53407561G>T	GRCh37
NC_000023.9:g.53424286G>T	NCBI36
NG_006988.2:g.47031C>A , LRG_773:g.47031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3598C>A MANE Select	ENSP00000323421.3:p.Leu1200Ile
ENST00000674590.1:c.2830C>A	ENSP00000502626.1:p.Leu944Ile
ENST00000675504.1:c.3532C>A	ENSP00000502524.1:p.Leu1178Ile
ENST00000322213.8:c.3598C>A	ENSP00000323421.3:p.Leu1200Ile
ENST00000375340.10:c.3532C>A	ENSP00000364489.7:p.Leu1178Ile
ENST00000470241.2:c.818C>A
NM_001281463.1:c.3532C>A , LRG_773t1:c.3532C>A	NP_001268392.1:p.Leu1178Ile
NM_006306.3:c.3598C>A , LRG_773t2:c.3598C>A	NP_006297.2:p.Leu1200Ile
NM_006306.4:c.3598C>A MANE Select	NP_006297.2:p.Leu1200Ile