Canonical Allele Identifier: CA350497783

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217280092T>C (hg19) ; chr2:g.216415369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415369T>C , CM000664.2:g.216415369T>C	GRCh38
NC_000002.11:g.217280092T>C , CM000664.1:g.217280092T>C	GRCh37
NC_000002.10:g.216988337T>C	NCBI36
NG_009771.1:g.7956T>C , LRG_108:g.7956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.665T>C	ENSP00000394410.2:p.Leu222Pro
ENST00000430374.6:c.665T>C	ENSP00000405077.2:p.Leu222Pro
ENST00000444508.6:c.665T>C	ENSP00000398969.2:p.Leu222Pro
ENST00000697898.1:n.1026T>C
ENST00000697899.1:c.665T>C	ENSP00000513470.1:p.Leu222Pro
ENST00000697900.1:n.941T>C
ENST00000697901.1:c.665T>C	ENSP00000513471.1:p.Leu222Pro
ENST00000697902.1:n.897T>C
ENST00000697903.1:c.665T>C	ENSP00000513472.1:p.Leu222Pro
ENST00000697904.1:c.665T>C	ENSP00000513473.1:p.Leu222Pro
ENST00000697905.1:c.665T>C	ENSP00000513474.1:p.Leu222Pro
ENST00000697906.1:c.665T>C	ENSP00000513475.1:p.Leu222Pro
ENST00000697907.1:c.665T>C	ENSP00000513476.1:p.Leu222Pro
ENST00000357276.9:c.665T>C MANE Select	ENSP00000349823.4:p.Leu222Pro
ENST00000357276.8:c.665T>C	ENSP00000349823.4:p.Leu222Pro
ENST00000358207.9:c.665T>C	ENSP00000350940.5:p.Leu222Pro
ENST00000392128.6:c.257T>C	ENSP00000375974.2:p.Leu86Pro
ENST00000427645.5:c.362T>C	ENSP00000392997.1:p.Leu121Pro
NM_001127207.1:c.665T>C	NP_001120679.1:p.Leu222Pro
NM_014140.3:c.665T>C , LRG_108t1:c.665T>C	NP_054859.2:p.Leu222Pro
XM_005246631.2:c.665T>C	XP_005246688.1:p.Leu222Pro
XM_005246632.1:c.665T>C	XP_005246689.1:p.Leu222Pro
XM_006712557.1:c.665T>C	XP_006712620.1:p.Leu222Pro
XM_005246632.2:c.665T>C	XP_005246689.1:p.Leu222Pro
XM_017004228.2:c.-252T>C	XP_016859717.1:n.-252T>C
NM_001127207.2:c.665T>C	NP_001120679.1:p.Leu222Pro
NM_014140.4:c.665T>C MANE Select	NP_054859.2:p.Leu222Pro