Canonical Allele Identifier: CA350501897

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217315570T>C (hg19) ; chr2:g.216450847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216450847T>C , CM000664.2:g.216450847T>C	GRCh38
NC_000002.11:g.217315570T>C , CM000664.1:g.217315570T>C	GRCh37
NC_000002.10:g.217023815T>C	NCBI36
NG_009771.1:g.43434T>C , LRG_108:g.43434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1853T>C	ENSP00000394410.2:p.Met618Thr
ENST00000430374.6:c.1853T>C	ENSP00000405077.2:p.Met618Thr
ENST00000444508.6:c.1853T>C	ENSP00000398969.2:p.Met618Thr
ENST00000486983.2:n.384T>C
ENST00000697898.1:n.2214T>C
ENST00000697899.1:c.1619T>C	ENSP00000513470.1:p.Met540Thr
ENST00000697901.1:c.*711T>C	ENSP00000513471.1:n.*711T>C
ENST00000697902.1:n.2085T>C
ENST00000697903.1:c.*340T>C	ENSP00000513472.1:n.*340T>C
ENST00000697904.1:c.*340T>C	ENSP00000513473.1:n.*340T>C
ENST00000697905.1:c.*340T>C	ENSP00000513474.1:n.*340T>C
ENST00000697906.1:c.1619T>C	ENSP00000513475.1:p.Met540Thr
ENST00000697907.1:c.*711T>C	ENSP00000513476.1:n.*711T>C
ENST00000697908.1:n.1650T>C
ENST00000697909.1:n.745T>C
ENST00000357276.9:c.1853T>C MANE Select	ENSP00000349823.4:p.Met618Thr
ENST00000357276.8:c.1853T>C	ENSP00000349823.4:p.Met618Thr
ENST00000358207.9:c.1853T>C	ENSP00000350940.5:p.Met618Thr
ENST00000392128.6:c.1379T>C	ENSP00000375974.2:p.Met460Thr
ENST00000486983.1:n.39T>C
NM_001127207.1:c.1853T>C	NP_001120679.1:p.Met618Thr
NM_014140.3:c.1853T>C , LRG_108t1:c.1853T>C	NP_054859.2:p.Met618Thr
XM_005246631.2:c.1853T>C	XP_005246688.1:p.Met618Thr
XM_005246632.1:c.1853T>C	XP_005246689.1:p.Met618Thr
XM_006712557.1:c.1787T>C	XP_006712620.1:p.Met596Thr
XM_005246632.2:c.1853T>C	XP_005246689.1:p.Met618Thr
XM_017004228.2:c.941T>C	XP_016859717.1:p.Met314Thr
NM_001127207.2:c.1853T>C	NP_001120679.1:p.Met618Thr
NM_014140.4:c.1853T>C MANE Select	NP_054859.2:p.Met618Thr