Canonical Allele Identifier: CA350505536

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217347647A>T (hg19) ; chr2:g.216482924A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482924A>T , CM000664.2:g.216482924A>T	GRCh38
NC_000002.11:g.217347647A>T , CM000664.1:g.217347647A>T	GRCh37
NC_000002.10:g.217055892A>T	NCBI36
NG_009771.1:g.75511A>T , LRG_108:g.75511A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2812A>T	ENSP00000394410.2:p.Lys938Ter
ENST00000430374.6:c.2812A>T	ENSP00000405077.2:p.Lys938Ter
ENST00000444508.6:c.2812A>T	ENSP00000398969.2:p.Lys938Ter
ENST00000697899.1:c.2578A>T	ENSP00000513470.1:p.Lys860Ter
ENST00000697901.1:c.*1567A>T	ENSP00000513471.1:n.*1567A>T
ENST00000697903.1:c.*1299A>T	ENSP00000513472.1:n.*1299A>T
ENST00000697904.1:c.*1299A>T	ENSP00000513473.1:n.*1299A>T
ENST00000697905.1:c.*1299A>T	ENSP00000513474.1:n.*1299A>T
ENST00000697906.1:c.2578A>T	ENSP00000513475.1:p.Lys860Ter
ENST00000697907.1:c.*1670A>T	ENSP00000513476.1:n.*1670A>T
ENST00000697909.1:n.1704A>T
ENST00000697910.1:n.1209A>T
ENST00000357276.9:c.2812A>T MANE Select	ENSP00000349823.4:p.Lys938Ter
ENST00000357276.8:c.2812A>T	ENSP00000349823.4:p.Lys938Ter
ENST00000358207.9:c.2812A>T	ENSP00000350940.5:p.Lys938Ter
ENST00000392128.6:c.2338A>T	ENSP00000375974.2:p.Lys780Ter
NM_001127207.1:c.2812A>T	NP_001120679.1:p.Lys938Ter
NM_014140.3:c.2812A>T , LRG_108t1:c.2812A>T	NP_054859.2:p.Lys938Ter
XM_005246631.2:c.2812A>T	XP_005246688.1:p.Lys938Ter
XM_005246632.1:c.2812A>T	XP_005246689.1:p.Lys938Ter
XM_006712557.1:c.2746A>T	XP_006712620.1:p.Lys916Ter
XM_005246632.2:c.2812A>T	XP_005246689.1:p.Lys938Ter
XM_017004228.2:c.1900A>T	XP_016859717.1:p.Lys634Ter
NM_001127207.2:c.2812A>T	NP_001120679.1:p.Lys938Ter
NM_014140.4:c.2812A>T MANE Select	NP_054859.2:p.Lys938Ter