Canonical Allele Identifier: CA431402925

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2736115
• ClinVar RCV Id: RCV003504580
• MyVariant Identifiers: chr2:g.217280012A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415289A>C , CM000664.2:g.216415289A>C	GRCh38
NC_000002.11:g.217280012A>C , CM000664.1:g.217280012A>C	GRCh37
NC_000002.10:g.216988257A>C	NCBI36
NG_009771.1:g.7876A>C , LRG_108:g.7876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.585A>C	ENSP00000394410.2:p.Ala195=
ENST00000430374.6:c.585A>C	ENSP00000405077.2:p.Ala195=
ENST00000444508.6:c.585A>C	ENSP00000398969.2:p.Ala195=
ENST00000697898.1:n.946A>C
ENST00000697899.1:c.585A>C	ENSP00000513470.1:p.Ala195=
ENST00000697900.1:n.861A>C
ENST00000697901.1:c.585A>C	ENSP00000513471.1:p.Ala195=
ENST00000697902.1:n.817A>C
ENST00000697903.1:c.585A>C	ENSP00000513472.1:p.Ala195=
ENST00000697904.1:c.585A>C	ENSP00000513473.1:p.Ala195=
ENST00000697905.1:c.585A>C	ENSP00000513474.1:p.Ala195=
ENST00000697906.1:c.585A>C	ENSP00000513475.1:p.Ala195=
ENST00000697907.1:c.585A>C	ENSP00000513476.1:p.Ala195=
ENST00000357276.9:c.585A>C MANE Select	ENSP00000349823.4:p.Ala195=
ENST00000357276.8:c.585A>C	ENSP00000349823.4:p.Ala195=
ENST00000358207.9:c.585A>C	ENSP00000350940.5:p.Ala195=
ENST00000392128.6:c.177A>C	ENSP00000375974.2:p.Ala59=
ENST00000427645.5:c.282A>C	ENSP00000392997.1:p.Ala94=
NM_001127207.1:c.585A>C	NP_001120679.1:p.Ala195=
NM_014140.3:c.585A>C , LRG_108t1:c.585A>C	NP_054859.2:p.Ala195=
XM_005246631.2:c.585A>C	XP_005246688.1:p.Ala195=
XM_005246632.1:c.585A>C	XP_005246689.1:p.Ala195=
XM_006712557.1:c.585A>C	XP_006712620.1:p.Ala195=
XM_005246632.2:c.585A>C	XP_005246689.1:p.Ala195=
XM_017004228.2:c.-332A>C	XP_016859717.1:n.-332A>C
NM_001127207.2:c.585A>C	NP_001120679.1:p.Ala195=
NM_014140.4:c.585A>C MANE Select	NP_054859.2:p.Ala195=