Canonical Allele Identifier: CA2098300

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 282214
• ClinVar RCV Id: RCV000319671 ; RCV001242768
• dbSNP Id: rs200431186
• ExAC: 2:217347600 T / C
• gnomAD v2: 2-217347600-T-C
• gnomAD v3: 2-216482877-T-C
• gnomAD v4: 2-216482877-T-C
• MyVariant Identifiers: chr2:g.217347600T>C (hg19) ; chr2:g.216482877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482877T>C , CM000664.2:g.216482877T>C	GRCh38
NC_000002.11:g.217347600T>C , CM000664.1:g.217347600T>C	GRCh37
NC_000002.10:g.217055845T>C	NCBI36
NG_009771.1:g.75464T>C , LRG_108:g.75464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2765T>C	ENSP00000394410.2:p.Met922Thr
ENST00000430374.6:c.2765T>C	ENSP00000405077.2:p.Met922Thr
ENST00000444508.6:c.2765T>C	ENSP00000398969.2:p.Met922Thr
ENST00000697899.1:c.2531T>C	ENSP00000513470.1:p.Met844Thr
ENST00000697901.1:c.*1520T>C	ENSP00000513471.1:n.*1520T>C
ENST00000697903.1:c.*1252T>C	ENSP00000513472.1:n.*1252T>C
ENST00000697904.1:c.*1252T>C	ENSP00000513473.1:n.*1252T>C
ENST00000697905.1:c.*1252T>C	ENSP00000513474.1:n.*1252T>C
ENST00000697906.1:c.2531T>C	ENSP00000513475.1:p.Met844Thr
ENST00000697907.1:c.*1623T>C	ENSP00000513476.1:n.*1623T>C
ENST00000697909.1:n.1657T>C
ENST00000697910.1:n.1162T>C
ENST00000357276.9:c.2765T>C MANE Select	ENSP00000349823.4:p.Met922Thr
ENST00000357276.8:c.2765T>C	ENSP00000349823.4:p.Met922Thr
ENST00000358207.9:c.2765T>C	ENSP00000350940.5:p.Met922Thr
ENST00000392128.6:c.2291T>C	ENSP00000375974.2:p.Met764Thr
NM_001127207.1:c.2765T>C	NP_001120679.1:p.Met922Thr
NM_014140.3:c.2765T>C , LRG_108t1:c.2765T>C	NP_054859.2:p.Met922Thr
XM_005246631.2:c.2765T>C	XP_005246688.1:p.Met922Thr
XM_005246632.1:c.2765T>C	XP_005246689.1:p.Met922Thr
XM_006712557.1:c.2699T>C	XP_006712620.1:p.Met900Thr
XM_005246632.2:c.2765T>C	XP_005246689.1:p.Met922Thr
XM_017004228.2:c.1853T>C	XP_016859717.1:p.Met618Thr
NM_001127207.2:c.2765T>C	NP_001120679.1:p.Met922Thr
NM_014140.4:c.2765T>C MANE Select	NP_054859.2:p.Met922Thr