Canonical Allele Identifier: CA350501415

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216438487T>C , CM000664.2:g.216438487T>C	GRCh38
NC_000002.11:g.217303210T>C , CM000664.1:g.217303210T>C	GRCh37
NC_000002.10:g.217011455T>C	NCBI36
NG_009771.1:g.31074T>C , LRG_108:g.31074T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1710+2T>C MANE Select	NP_054859.2:n.1710+2T>C
ENST00000357276.9:c.1710+2T>C MANE Select	ENSP00000349823.4:n.1710+2T>C
NM_001127207.1:c.1710+2T>C	NP_001120679.1:n.1710+2T>C
NM_001127207.2:c.1710+2T>C	NP_001120679.1:n.1710+2T>C
NM_014140.3:c.1710+2T>C , LRG_108t1:c.1710+2T>C	NP_054859.2:n.1710+2T>C
ENST00000357276.8:c.1710+2T>C	ENSP00000349823.4:n.1710+2T>C
ENST00000358207.9:c.1710+2T>C	ENSP00000350940.5:n.1710+2T>C
ENST00000392128.6:c.1236+2991T>C	ENSP00000375974.2:n.1236+2991T>C
ENST00000425815.6:c.1710+2T>C	ENSP00000394410.2:n.1710+2T>C
ENST00000430374.6:c.1710+2T>C	ENSP00000405077.2:n.1710+2T>C
ENST00000444508.6:c.1710+2T>C	ENSP00000398969.2:n.1710+2T>C
ENST00000445153.1:c.383+2T>C
ENST00000697898.1:n.2071+2T>C
ENST00000697899.1:c.1476+2T>C	ENSP00000513470.1:n.1476+2T>C
ENST00000697901.1:c.*568+2T>C	ENSP00000513471.1:n.*568+2T>C
ENST00000697902.1:n.1942+2T>C
ENST00000697903.1:c.*197+2T>C	ENSP00000513472.1:n.*197+2T>C
ENST00000697904.1:c.*197+2T>C	ENSP00000513473.1:n.*197+2T>C
ENST00000697905.1:c.*197+2T>C	ENSP00000513474.1:n.*197+2T>C
ENST00000697906.1:c.1476+2T>C	ENSP00000513475.1:n.1476+2T>C
ENST00000697907.1:c.*568+2T>C	ENSP00000513476.1:n.*568+2T>C
ENST00000697908.1:n.1507+2T>C
ENST00000697909.1:n.602+2T>C
XM_005246631.2:c.1710+2T>C	XP_005246688.1:n.1710+2T>C
XM_005246632.1:c.1710+2T>C	XP_005246689.1:n.1710+2T>C
XM_005246632.2:c.1710+2T>C	XP_005246689.1:n.1710+2T>C
XM_006712557.1:c.1644+2991T>C	XP_006712620.1:n.1644+2991T>C
XM_017004228.2:c.798+2T>C	XP_016859717.1:n.798+2T>C