Canonical Allele Identifier: CA350504903

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217342931T>C (hg19) ; chr2:g.216478208T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478208T>C , CM000664.2:g.216478208T>C	GRCh38
NC_000002.11:g.217342931T>C , CM000664.1:g.217342931T>C	GRCh37
NC_000002.10:g.217051176T>C	NCBI36
NG_009771.1:g.70795T>C , LRG_108:g.70795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2534T>C	ENSP00000394410.2:p.Leu845Pro
ENST00000430374.6:c.2534T>C	ENSP00000405077.2:p.Leu845Pro
ENST00000444508.6:c.2534T>C	ENSP00000398969.2:p.Leu845Pro
ENST00000697899.1:c.2300T>C	ENSP00000513470.1:p.Leu767Pro
ENST00000697901.1:c.*1289T>C	ENSP00000513471.1:n.*1289T>C
ENST00000697903.1:c.*1021T>C	ENSP00000513472.1:n.*1021T>C
ENST00000697904.1:c.*1021T>C	ENSP00000513473.1:n.*1021T>C
ENST00000697905.1:c.*1021T>C	ENSP00000513474.1:n.*1021T>C
ENST00000697906.1:c.2300T>C	ENSP00000513475.1:p.Leu767Pro
ENST00000697907.1:c.*1392T>C	ENSP00000513476.1:n.*1392T>C
ENST00000697908.1:n.2228T>C
ENST00000697909.1:n.1426T>C
ENST00000697910.1:n.931T>C
ENST00000697911.1:n.840T>C
ENST00000357276.9:c.2534T>C MANE Select	ENSP00000349823.4:p.Leu845Pro
ENST00000357276.8:c.2534T>C	ENSP00000349823.4:p.Leu845Pro
ENST00000358207.9:c.2534T>C	ENSP00000350940.5:p.Leu845Pro
ENST00000392128.6:c.2060T>C	ENSP00000375974.2:p.Leu687Pro
NM_001127207.1:c.2534T>C	NP_001120679.1:p.Leu845Pro
NM_014140.3:c.2534T>C , LRG_108t1:c.2534T>C	NP_054859.2:p.Leu845Pro
XM_005246631.2:c.2534T>C	XP_005246688.1:p.Leu845Pro
XM_005246632.1:c.2534T>C	XP_005246689.1:p.Leu845Pro
XM_006712557.1:c.2468T>C	XP_006712620.1:p.Leu823Pro
XM_005246632.2:c.2534T>C	XP_005246689.1:p.Leu845Pro
XM_017004228.2:c.1622T>C	XP_016859717.1:p.Leu541Pro
NM_001127207.2:c.2534T>C	NP_001120679.1:p.Leu845Pro
NM_014140.4:c.2534T>C MANE Select	NP_054859.2:p.Leu845Pro