Canonical Allele Identifier: CA2098275

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 532007
• ClinVar RCV Id: RCV000638572 ; RCV003945610
• dbSNP Id: rs190386780
• ExAC: 2:217347476 A / C
• gnomAD v2: 2-217347476-A-C
• gnomAD v3: 2-216482753-A-C
• gnomAD v4: 2-216482753-A-C
• MyVariant Identifiers: chr2:g.217347476A>C (hg19) ; chr2:g.216482753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482753A>C , CM000664.2:g.216482753A>C	GRCh38
NC_000002.11:g.217347476A>C , CM000664.1:g.217347476A>C	GRCh37
NC_000002.10:g.217055721A>C	NCBI36
NG_009771.1:g.75340A>C , LRG_108:g.75340A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2641A>C	ENSP00000394410.2:p.Lys881Gln
ENST00000430374.6:c.2641A>C	ENSP00000405077.2:p.Lys881Gln
ENST00000444508.6:c.2641A>C	ENSP00000398969.2:p.Lys881Gln
ENST00000697899.1:c.2407A>C	ENSP00000513470.1:p.Lys803Gln
ENST00000697901.1:c.*1396A>C	ENSP00000513471.1:n.*1396A>C
ENST00000697903.1:c.*1128A>C	ENSP00000513472.1:n.*1128A>C
ENST00000697904.1:c.*1128A>C	ENSP00000513473.1:n.*1128A>C
ENST00000697905.1:c.*1128A>C	ENSP00000513474.1:n.*1128A>C
ENST00000697906.1:c.2407A>C	ENSP00000513475.1:p.Lys803Gln
ENST00000697907.1:c.*1499A>C	ENSP00000513476.1:n.*1499A>C
ENST00000697909.1:n.1533A>C
ENST00000697910.1:n.1038A>C
ENST00000357276.9:c.2641A>C MANE Select	ENSP00000349823.4:p.Lys881Gln
ENST00000357276.8:c.2641A>C	ENSP00000349823.4:p.Lys881Gln
ENST00000358207.9:c.2641A>C	ENSP00000350940.5:p.Lys881Gln
ENST00000392128.6:c.2167A>C	ENSP00000375974.2:p.Lys723Gln
NM_001127207.1:c.2641A>C	NP_001120679.1:p.Lys881Gln
NM_014140.3:c.2641A>C , LRG_108t1:c.2641A>C	NP_054859.2:p.Lys881Gln
XM_005246631.2:c.2641A>C	XP_005246688.1:p.Lys881Gln
XM_005246632.1:c.2641A>C	XP_005246689.1:p.Lys881Gln
XM_006712557.1:c.2575A>C	XP_006712620.1:p.Lys859Gln
XM_005246632.2:c.2641A>C	XP_005246689.1:p.Lys881Gln
XM_017004228.2:c.1729A>C	XP_016859717.1:p.Lys577Gln
NM_001127207.2:c.2641A>C	NP_001120679.1:p.Lys881Gln
NM_014140.4:c.2641A>C MANE Select	NP_054859.2:p.Lys881Gln