Canonical Allele Identifier: CA350499441

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217293340C>A (hg19) ; chr2:g.216428617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428617C>A , CM000664.2:g.216428617C>A	GRCh38
NC_000002.11:g.217293340C>A , CM000664.1:g.217293340C>A	GRCh37
NC_000002.10:g.217001585C>A	NCBI36
NG_009771.1:g.21204C>A , LRG_108:g.21204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.1169C>A	ENSP00000394410.2:p.Pro390Gln
ENST00000430374.6:c.1169C>A	ENSP00000405077.2:p.Pro390Gln
ENST00000444508.6:c.1169C>A	ENSP00000398969.2:p.Pro390Gln
ENST00000697898.1:n.1530C>A
ENST00000697899.1:c.935C>A	ENSP00000513470.1:p.Pro312Gln
ENST00000697900.1:n.1445C>A
ENST00000697901.1:c.*27C>A	ENSP00000513471.1:n.*27C>A
ENST00000697902.1:n.1401C>A
ENST00000697903.1:c.1169C>A	ENSP00000513472.1:p.Pro390Gln
ENST00000697904.1:c.1169C>A	ENSP00000513473.1:p.Pro390Gln
ENST00000697905.1:c.1169C>A	ENSP00000513474.1:p.Pro390Gln
ENST00000697906.1:c.935C>A	ENSP00000513475.1:p.Pro312Gln
ENST00000697907.1:c.*27C>A	ENSP00000513476.1:n.*27C>A
ENST00000697908.1:n.966C>A
ENST00000357276.9:c.1169C>A MANE Select	ENSP00000349823.4:p.Pro390Gln
ENST00000357276.8:c.1169C>A	ENSP00000349823.4:p.Pro390Gln
ENST00000358207.9:c.1169C>A	ENSP00000350940.5:p.Pro390Gln
ENST00000392128.6:c.761C>A	ENSP00000375974.2:p.Pro254Gln
ENST00000412913.1:c.329C>A	ENSP00000390248.1:p.Pro110Gln
ENST00000427645.5:c.815C>A	ENSP00000392997.1:p.Pro272Gln
ENST00000479008.1:n.413C>A
NM_001127207.1:c.1169C>A	NP_001120679.1:p.Pro390Gln
NM_014140.3:c.1169C>A , LRG_108t1:c.1169C>A	NP_054859.2:p.Pro390Gln
XM_005246631.2:c.1169C>A	XP_005246688.1:p.Pro390Gln
XM_005246632.1:c.1169C>A	XP_005246689.1:p.Pro390Gln
XM_006712557.1:c.1169C>A	XP_006712620.1:p.Pro390Gln
XM_005246632.2:c.1169C>A	XP_005246689.1:p.Pro390Gln
XM_017004228.2:c.257C>A	XP_016859717.1:p.Pro86Gln
NM_001127207.2:c.1169C>A	NP_001120679.1:p.Pro390Gln
NM_014140.4:c.1169C>A MANE Select	NP_054859.2:p.Pro390Gln