Canonical Allele Identifier: CA350498083

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2115373
• ClinVar RCV Id: RCV003046425
• MyVariant Identifiers: chr2:g.217280231G>C (hg19) ; chr2:g.216415508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415508G>C , CM000664.2:g.216415508G>C	GRCh38
NC_000002.11:g.217280231G>C , CM000664.1:g.217280231G>C	GRCh37
NC_000002.10:g.216988476G>C	NCBI36
NG_009771.1:g.8095G>C , LRG_108:g.8095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.804G>C	ENSP00000394410.2:p.Lys268Asn
ENST00000430374.6:c.804G>C	ENSP00000405077.2:p.Lys268Asn
ENST00000444508.6:c.804G>C	ENSP00000398969.2:p.Lys268Asn
ENST00000697898.1:n.1165G>C
ENST00000697899.1:c.804G>C	ENSP00000513470.1:p.Lys268Asn
ENST00000697900.1:n.1080G>C
ENST00000697901.1:c.804G>C	ENSP00000513471.1:p.Lys268Asn
ENST00000697902.1:n.1036G>C
ENST00000697903.1:c.804G>C	ENSP00000513472.1:p.Lys268Asn
ENST00000697904.1:c.804G>C	ENSP00000513473.1:p.Lys268Asn
ENST00000697905.1:c.804G>C	ENSP00000513474.1:p.Lys268Asn
ENST00000697906.1:c.804G>C	ENSP00000513475.1:p.Lys268Asn
ENST00000697907.1:c.804G>C	ENSP00000513476.1:p.Lys268Asn
ENST00000357276.9:c.804G>C MANE Select	ENSP00000349823.4:p.Lys268Asn
ENST00000357276.8:c.804G>C	ENSP00000349823.4:p.Lys268Asn
ENST00000358207.9:c.804G>C	ENSP00000350940.5:p.Lys268Asn
ENST00000392128.6:c.396G>C	ENSP00000375974.2:p.Lys132Asn
ENST00000427645.5:c.501G>C	ENSP00000392997.1:p.Lys167Asn
NM_001127207.1:c.804G>C	NP_001120679.1:p.Lys268Asn
NM_014140.3:c.804G>C , LRG_108t1:c.804G>C	NP_054859.2:p.Lys268Asn
XM_005246631.2:c.804G>C	XP_005246688.1:p.Lys268Asn
XM_005246632.1:c.804G>C	XP_005246689.1:p.Lys268Asn
XM_006712557.1:c.804G>C	XP_006712620.1:p.Lys268Asn
XM_005246632.2:c.804G>C	XP_005246689.1:p.Lys268Asn
XM_017004228.2:c.-113G>C	XP_016859717.1:n.-113G>C
NM_001127207.2:c.804G>C	NP_001120679.1:p.Lys268Asn
NM_014140.4:c.804G>C MANE Select	NP_054859.2:p.Lys268Asn