Canonical Allele Identifier: CA350499426

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216428610-T-C
• MyVariant Identifiers: chr2:g.217293333T>C (hg19) ; chr2:g.216428610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428610T>C , CM000664.2:g.216428610T>C	GRCh38
NC_000002.11:g.217293333T>C , CM000664.1:g.217293333T>C	GRCh37
NC_000002.10:g.217001578T>C	NCBI36
NG_009771.1:g.21197T>C , LRG_108:g.21197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.1162T>C	ENSP00000394410.2:p.Cys388Arg
ENST00000430374.6:c.1162T>C	ENSP00000405077.2:p.Cys388Arg
ENST00000444508.6:c.1162T>C	ENSP00000398969.2:p.Cys388Arg
ENST00000697898.1:n.1523T>C
ENST00000697899.1:c.928T>C	ENSP00000513470.1:p.Cys310Arg
ENST00000697900.1:n.1438T>C
ENST00000697901.1:c.*20T>C	ENSP00000513471.1:n.*20T>C
ENST00000697902.1:n.1394T>C
ENST00000697903.1:c.1162T>C	ENSP00000513472.1:p.Cys388Arg
ENST00000697904.1:c.1162T>C	ENSP00000513473.1:p.Cys388Arg
ENST00000697905.1:c.1162T>C	ENSP00000513474.1:p.Cys388Arg
ENST00000697906.1:c.928T>C	ENSP00000513475.1:p.Cys310Arg
ENST00000697907.1:c.*20T>C	ENSP00000513476.1:n.*20T>C
ENST00000697908.1:n.959T>C
ENST00000357276.9:c.1162T>C MANE Select	ENSP00000349823.4:p.Cys388Arg
ENST00000357276.8:c.1162T>C	ENSP00000349823.4:p.Cys388Arg
ENST00000358207.9:c.1162T>C	ENSP00000350940.5:p.Cys388Arg
ENST00000392128.6:c.754T>C	ENSP00000375974.2:p.Cys252Arg
ENST00000412913.1:c.322T>C	ENSP00000390248.1:p.Cys108Arg
ENST00000427645.5:c.808T>C	ENSP00000392997.1:p.Cys270Arg
ENST00000479008.1:n.406T>C
NM_001127207.1:c.1162T>C	NP_001120679.1:p.Cys388Arg
NM_014140.3:c.1162T>C , LRG_108t1:c.1162T>C	NP_054859.2:p.Cys388Arg
XM_005246631.2:c.1162T>C	XP_005246688.1:p.Cys388Arg
XM_005246632.1:c.1162T>C	XP_005246689.1:p.Cys388Arg
XM_006712557.1:c.1162T>C	XP_006712620.1:p.Cys388Arg
XM_005246632.2:c.1162T>C	XP_005246689.1:p.Cys388Arg
XM_017004228.2:c.250T>C	XP_016859717.1:p.Cys84Arg
NM_001127207.2:c.1162T>C	NP_001120679.1:p.Cys388Arg
NM_014140.4:c.1162T>C MANE Select	NP_054859.2:p.Cys388Arg