Canonical Allele Identifier: CA350501721

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216447084C>T , CM000664.2:g.216447084C>T	GRCh38
NC_000002.11:g.217311807C>T , CM000664.1:g.217311807C>T	GRCh37
NC_000002.10:g.217020052C>T	NCBI36
NG_009771.1:g.39671C>T , LRG_108:g.39671C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1777C>T MANE Select	NP_054859.2:p.Gln593Ter
ENST00000357276.9:c.1777C>T MANE Select	ENSP00000349823.4:p.Gln593Ter
NM_001127207.1:c.1777C>T	NP_001120679.1:p.Gln593Ter
NM_001127207.2:c.1777C>T	NP_001120679.1:p.Gln593Ter
NM_014140.3:c.1777C>T , LRG_108t1:c.1777C>T	NP_054859.2:p.Gln593Ter
ENST00000357276.8:c.1777C>T	ENSP00000349823.4:p.Gln593Ter
ENST00000358207.9:c.1777C>T	ENSP00000350940.5:p.Gln593Ter
ENST00000392128.6:c.1303C>T	ENSP00000375974.2:p.Gln435Ter
ENST00000425815.6:c.1777C>T	ENSP00000394410.2:p.Gln593Ter
ENST00000430374.6:c.1777C>T	ENSP00000405077.2:p.Gln593Ter
ENST00000444508.6:c.1777C>T	ENSP00000398969.2:p.Gln593Ter
ENST00000486983.2:n.308C>T
ENST00000697898.1:n.2138C>T
ENST00000697899.1:c.1543C>T	ENSP00000513470.1:p.Gln515Ter
ENST00000697901.1:c.*635C>T	ENSP00000513471.1:n.*635C>T
ENST00000697902.1:n.2009C>T
ENST00000697903.1:c.*264C>T	ENSP00000513472.1:n.*264C>T
ENST00000697904.1:c.*264C>T	ENSP00000513473.1:n.*264C>T
ENST00000697905.1:c.*264C>T	ENSP00000513474.1:n.*264C>T
ENST00000697906.1:c.1543C>T	ENSP00000513475.1:p.Gln515Ter
ENST00000697907.1:c.*635C>T	ENSP00000513476.1:n.*635C>T
ENST00000697908.1:n.1574C>T
ENST00000697909.1:n.669C>T
XM_005246631.2:c.1777C>T	XP_005246688.1:p.Gln593Ter
XM_005246632.1:c.1777C>T	XP_005246689.1:p.Gln593Ter
XM_005246632.2:c.1777C>T	XP_005246689.1:p.Gln593Ter
XM_006712557.1:c.1711C>T	XP_006712620.1:p.Gln571Ter
XM_017004228.2:c.865C>T	XP_016859717.1:p.Gln289Ter