Canonical Allele Identifier: CA350505547

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217347652G>C (hg19) ; chr2:g.216482929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482929G>C , CM000664.2:g.216482929G>C	GRCh38
NC_000002.11:g.217347652G>C , CM000664.1:g.217347652G>C	GRCh37
NC_000002.10:g.217055897G>C	NCBI36
NG_009771.1:g.75516G>C , LRG_108:g.75516G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2817G>C	ENSP00000394410.2:p.Arg939Ser
ENST00000430374.6:c.2817G>C	ENSP00000405077.2:p.Arg939Ser
ENST00000444508.6:c.2817G>C	ENSP00000398969.2:p.Arg939Ser
ENST00000697899.1:c.2583G>C	ENSP00000513470.1:p.Arg861Ser
ENST00000697901.1:c.*1572G>C	ENSP00000513471.1:n.*1572G>C
ENST00000697903.1:c.*1304G>C	ENSP00000513472.1:n.*1304G>C
ENST00000697904.1:c.*1304G>C	ENSP00000513473.1:n.*1304G>C
ENST00000697905.1:c.*1304G>C	ENSP00000513474.1:n.*1304G>C
ENST00000697906.1:c.2583G>C	ENSP00000513475.1:p.Arg861Ser
ENST00000697907.1:c.*1675G>C	ENSP00000513476.1:n.*1675G>C
ENST00000697909.1:n.1709G>C
ENST00000697910.1:n.1214G>C
ENST00000357276.9:c.2817G>C MANE Select	ENSP00000349823.4:p.Arg939Ser
ENST00000357276.8:c.2817G>C	ENSP00000349823.4:p.Arg939Ser
ENST00000358207.9:c.2817G>C	ENSP00000350940.5:p.Arg939Ser
ENST00000392128.6:c.2343G>C	ENSP00000375974.2:p.Arg781Ser
NM_001127207.1:c.2817G>C	NP_001120679.1:p.Arg939Ser
NM_014140.3:c.2817G>C , LRG_108t1:c.2817G>C	NP_054859.2:p.Arg939Ser
XM_005246631.2:c.2817G>C	XP_005246688.1:p.Arg939Ser
XM_005246632.1:c.2817G>C	XP_005246689.1:p.Arg939Ser
XM_006712557.1:c.2751G>C	XP_006712620.1:p.Arg917Ser
XM_005246632.2:c.2817G>C	XP_005246689.1:p.Arg939Ser
XM_017004228.2:c.1905G>C	XP_016859717.1:p.Arg635Ser
NM_001127207.2:c.2817G>C	NP_001120679.1:p.Arg939Ser
NM_014140.4:c.2817G>C MANE Select	NP_054859.2:p.Arg939Ser