Canonical Allele Identifier: CA539838571

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1416449483
• gnomAD v2: 2-217347741-T-A
• gnomAD v4: 2-216483018-T-A
• MyVariant Identifiers: chr2:g.217347741T>A (hg19) ; chr2:g.216483018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483018T>A , CM000664.2:g.216483018T>A	GRCh38
NC_000002.11:g.217347741T>A , CM000664.1:g.217347741T>A	GRCh37
NC_000002.10:g.217055986T>A	NCBI36
NG_009771.1:g.75605T>A , LRG_108:g.75605T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.*41T>A	ENSP00000394410.2:n.*41T>A
ENST00000430374.6:c.*41T>A	ENSP00000405077.2:n.*41T>A
ENST00000444508.6:c.*41T>A	ENSP00000398969.2:n.*41T>A
ENST00000697899.1:c.*41T>A	ENSP00000513470.1:n.*41T>A
ENST00000697903.1:c.*1393T>A	ENSP00000513472.1:n.*1393T>A
ENST00000697904.1:c.*1393T>A	ENSP00000513473.1:n.*1393T>A
ENST00000697905.1:c.*1393T>A	ENSP00000513474.1:n.*1393T>A
ENST00000697906.1:c.*41T>A	ENSP00000513475.1:n.*41T>A
ENST00000697907.1:c.*1764T>A	ENSP00000513476.1:n.*1764T>A
ENST00000697909.1:n.1798T>A
ENST00000697910.1:n.1303T>A
ENST00000357276.9:c.*41T>A MANE Select	ENSP00000349823.4:n.*41T>A
ENST00000357276.8:c.*41T>A	ENSP00000349823.4:n.*41T>A
NM_001127207.1:c.*41T>A	NP_001120679.1:n.*41T>A
NM_014140.3:c.*41T>A , LRG_108t1:c.*41T>A	NP_054859.2:n.*41T>A
XM_005246631.2:c.*41T>A	XP_005246688.1:n.*41T>A
XM_005246632.1:c.*41T>A	XP_005246689.1:n.*41T>A
XM_006712557.1:c.*41T>A	XP_006712620.1:n.*41T>A
XM_005246632.2:c.*41T>A	XP_005246689.1:n.*41T>A
XM_017004228.2:c.*41T>A	XP_016859717.1:n.*41T>A
NM_001127207.2:c.*41T>A	NP_001120679.1:n.*41T>A
NM_014140.4:c.*41T>A MANE Select	NP_054859.2:n.*41T>A