Canonical Allele Identifier: CA350500275

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 504092
• ClinVar RCV Id: RCV000599374 ; RCV002498879
• dbSNP Id: rs1553526228
• gnomAD v4: 2-216432866-C-T
• MyVariant Identifiers: chr2:g.217297589C>T (hg19) ; chr2:g.216432866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216432866C>T , CM000664.2:g.216432866C>T	GRCh38
NC_000002.11:g.217297589C>T , CM000664.1:g.217297589C>T	GRCh37
NC_000002.10:g.217005834C>T	NCBI36
NG_009771.1:g.25453C>T , LRG_108:g.25453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.1483C>T	ENSP00000394410.2:p.Gln495Ter
ENST00000430374.6:c.1483C>T	ENSP00000405077.2:p.Gln495Ter
ENST00000444508.6:c.1483C>T	ENSP00000398969.2:p.Gln495Ter
ENST00000697898.1:n.1844C>T
ENST00000697899.1:c.1249C>T	ENSP00000513470.1:p.Gln417Ter
ENST00000697900.1:n.1611-2472C>T
ENST00000697901.1:c.*341C>T	ENSP00000513471.1:n.*341C>T
ENST00000697902.1:n.1715C>T
ENST00000697903.1:c.1335-2472C>T	ENSP00000513472.1:n.1335-2472C>T
ENST00000697904.1:c.1335-2472C>T	ENSP00000513473.1:n.1335-2472C>T
ENST00000697905.1:c.1335-2472C>T	ENSP00000513474.1:n.1335-2472C>T
ENST00000697906.1:c.1249C>T	ENSP00000513475.1:p.Gln417Ter
ENST00000697907.1:c.*341C>T	ENSP00000513476.1:n.*341C>T
ENST00000697908.1:n.1280C>T
ENST00000357276.9:c.1483C>T MANE Select	ENSP00000349823.4:p.Gln495Ter
ENST00000357276.8:c.1483C>T	ENSP00000349823.4:p.Gln495Ter
ENST00000358207.9:c.1483C>T	ENSP00000350940.5:p.Gln495Ter
ENST00000392128.6:c.1075C>T	ENSP00000375974.2:p.Gln359Ter
ENST00000445153.1:c.156C>T
NM_001127207.1:c.1483C>T	NP_001120679.1:p.Gln495Ter
NM_014140.3:c.1483C>T , LRG_108t1:c.1483C>T	NP_054859.2:p.Gln495Ter
XM_005246631.2:c.1483C>T	XP_005246688.1:p.Gln495Ter
XM_005246632.1:c.1483C>T	XP_005246689.1:p.Gln495Ter
XM_006712557.1:c.1483C>T	XP_006712620.1:p.Gln495Ter
XM_005246632.2:c.1483C>T	XP_005246689.1:p.Gln495Ter
XM_017004228.2:c.571C>T	XP_016859717.1:p.Gln191Ter
NM_001127207.2:c.1483C>T	NP_001120679.1:p.Gln495Ter
NM_014140.4:c.1483C>T MANE Select	NP_054859.2:p.Gln495Ter