Canonical Allele Identifier: CA2097614

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs755477133
• ExAC: 2:217279993 A / C
• gnomAD v2: 2-217279993-A-C
• gnomAD v4: 2-216415270-A-C
• MyVariant Identifiers: chr2:g.217279993A>C (hg19) ; chr2:g.216415270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415270A>C , CM000664.2:g.216415270A>C	GRCh38
NC_000002.11:g.217279993A>C , CM000664.1:g.217279993A>C	GRCh37
NC_000002.10:g.216988238A>C	NCBI36
NG_009771.1:g.7857A>C , LRG_108:g.7857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.566A>C	ENSP00000394410.2:p.Lys189Thr
ENST00000430374.6:c.566A>C	ENSP00000405077.2:p.Lys189Thr
ENST00000444508.6:c.566A>C	ENSP00000398969.2:p.Lys189Thr
ENST00000697898.1:n.927A>C
ENST00000697899.1:c.566A>C	ENSP00000513470.1:p.Lys189Thr
ENST00000697900.1:n.842A>C
ENST00000697901.1:c.566A>C	ENSP00000513471.1:p.Lys189Thr
ENST00000697902.1:n.798A>C
ENST00000697903.1:c.566A>C	ENSP00000513472.1:p.Lys189Thr
ENST00000697904.1:c.566A>C	ENSP00000513473.1:p.Lys189Thr
ENST00000697905.1:c.566A>C	ENSP00000513474.1:p.Lys189Thr
ENST00000697906.1:c.566A>C	ENSP00000513475.1:p.Lys189Thr
ENST00000697907.1:c.566A>C	ENSP00000513476.1:p.Lys189Thr
ENST00000357276.9:c.566A>C MANE Select	ENSP00000349823.4:p.Lys189Thr
ENST00000357276.8:c.566A>C	ENSP00000349823.4:p.Lys189Thr
ENST00000358207.9:c.566A>C	ENSP00000350940.5:p.Lys189Thr
ENST00000392128.6:c.158A>C	ENSP00000375974.2:p.Lys53Thr
ENST00000427645.5:c.263A>C	ENSP00000392997.1:p.Lys88Thr
NM_001127207.1:c.566A>C	NP_001120679.1:p.Lys189Thr
NM_014140.3:c.566A>C , LRG_108t1:c.566A>C	NP_054859.2:p.Lys189Thr
XM_005246631.2:c.566A>C	XP_005246688.1:p.Lys189Thr
XM_005246632.1:c.566A>C	XP_005246689.1:p.Lys189Thr
XM_006712557.1:c.566A>C	XP_006712620.1:p.Lys189Thr
XM_005246632.2:c.566A>C	XP_005246689.1:p.Lys189Thr
XM_017004228.2:c.-351A>C	XP_016859717.1:n.-351A>C
NM_001127207.2:c.566A>C	NP_001120679.1:p.Lys189Thr
NM_014140.4:c.566A>C MANE Select	NP_054859.2:p.Lys189Thr