Canonical Allele Identifier: CA2097814

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 1112531
• ClinVar RCV Id: RCV001439576
• dbSNP Id: rs773587466
• ExAC: 2:217293371 T / C
• gnomAD v2: 2-217293371-T-C
• gnomAD v4: 2-216428648-T-C
• MyVariant Identifiers: chr2:g.217293371T>C (hg19) ; chr2:g.216428648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428648T>C , CM000664.2:g.216428648T>C	GRCh38
NC_000002.11:g.217293371T>C , CM000664.1:g.217293371T>C	GRCh37
NC_000002.10:g.217001616T>C	NCBI36
NG_009771.1:g.21235T>C , LRG_108:g.21235T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1200T>C	ENSP00000394410.2:p.Thr400=
ENST00000430374.6:c.1200T>C	ENSP00000405077.2:p.Thr400=
ENST00000444508.6:c.1200T>C	ENSP00000398969.2:p.Thr400=
ENST00000697898.1:n.1561T>C
ENST00000697899.1:c.966T>C	ENSP00000513470.1:p.Thr322=
ENST00000697900.1:n.1476T>C
ENST00000697901.1:c.*58T>C	ENSP00000513471.1:n.*58T>C
ENST00000697902.1:n.1432T>C
ENST00000697903.1:c.1200T>C	ENSP00000513472.1:p.Thr400=
ENST00000697904.1:c.1200T>C	ENSP00000513473.1:p.Thr400=
ENST00000697905.1:c.1200T>C	ENSP00000513474.1:p.Thr400=
ENST00000697906.1:c.966T>C	ENSP00000513475.1:p.Thr322=
ENST00000697907.1:c.*58T>C	ENSP00000513476.1:n.*58T>C
ENST00000697908.1:n.997T>C
ENST00000357276.9:c.1200T>C MANE Select	ENSP00000349823.4:p.Thr400=
ENST00000357276.8:c.1200T>C	ENSP00000349823.4:p.Thr400=
ENST00000358207.9:c.1200T>C	ENSP00000350940.5:p.Thr400=
ENST00000392128.6:c.792T>C	ENSP00000375974.2:p.Thr264=
ENST00000412913.1:c.360T>C	ENSP00000390248.1:p.Thr120=
ENST00000427645.5:c.846T>C	ENSP00000392997.1:p.Thr282=
ENST00000479008.1:n.444T>C
NM_001127207.1:c.1200T>C	NP_001120679.1:p.Thr400=
NM_014140.3:c.1200T>C , LRG_108t1:c.1200T>C	NP_054859.2:p.Thr400=
XM_005246631.2:c.1200T>C	XP_005246688.1:p.Thr400=
XM_005246632.1:c.1200T>C	XP_005246689.1:p.Thr400=
XM_006712557.1:c.1200T>C	XP_006712620.1:p.Thr400=
XM_005246632.2:c.1200T>C	XP_005246689.1:p.Thr400=
XM_017004228.2:c.288T>C	XP_016859717.1:p.Thr96=
NM_001127207.2:c.1200T>C	NP_001120679.1:p.Thr400=
NM_014140.4:c.1200T>C MANE Select	NP_054859.2:p.Thr400=