Canonical Allele Identifier: CA350505071

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217343008G>C (hg19) ; chr2:g.216478285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478285G>C , CM000664.2:g.216478285G>C	GRCh38
NC_000002.11:g.217343008G>C , CM000664.1:g.217343008G>C	GRCh37
NC_000002.10:g.217051253G>C	NCBI36
NG_009771.1:g.70872G>C , LRG_108:g.70872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2611G>C	ENSP00000394410.2:p.Asp871His
ENST00000430374.6:c.2611G>C	ENSP00000405077.2:p.Asp871His
ENST00000444508.6:c.2611G>C	ENSP00000398969.2:p.Asp871His
ENST00000697899.1:c.2377G>C	ENSP00000513470.1:p.Asp793His
ENST00000697901.1:c.*1366G>C	ENSP00000513471.1:n.*1366G>C
ENST00000697903.1:c.*1098G>C	ENSP00000513472.1:n.*1098G>C
ENST00000697904.1:c.*1098G>C	ENSP00000513473.1:n.*1098G>C
ENST00000697905.1:c.*1098G>C	ENSP00000513474.1:n.*1098G>C
ENST00000697906.1:c.2377G>C	ENSP00000513475.1:p.Asp793His
ENST00000697907.1:c.*1469G>C	ENSP00000513476.1:n.*1469G>C
ENST00000697908.1:n.2305G>C
ENST00000697909.1:n.1503G>C
ENST00000697910.1:n.1008G>C
ENST00000697911.1:n.917G>C
ENST00000357276.9:c.2611G>C MANE Select	ENSP00000349823.4:p.Asp871His
ENST00000357276.8:c.2611G>C	ENSP00000349823.4:p.Asp871His
ENST00000358207.9:c.2611G>C	ENSP00000350940.5:p.Asp871His
ENST00000392128.6:c.2137G>C	ENSP00000375974.2:p.Asp713His
NM_001127207.1:c.2611G>C	NP_001120679.1:p.Asp871His
NM_014140.3:c.2611G>C , LRG_108t1:c.2611G>C	NP_054859.2:p.Asp871His
XM_005246631.2:c.2611G>C	XP_005246688.1:p.Asp871His
XM_005246632.1:c.2611G>C	XP_005246689.1:p.Asp871His
XM_006712557.1:c.2545G>C	XP_006712620.1:p.Asp849His
XM_005246632.2:c.2611G>C	XP_005246689.1:p.Asp871His
XM_017004228.2:c.1699G>C	XP_016859717.1:p.Asp567His
NM_001127207.2:c.2611G>C	NP_001120679.1:p.Asp871His
NM_014140.4:c.2611G>C MANE Select	NP_054859.2:p.Asp871His