Canonical Allele Identifier: CA350502608

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216464603C>T , CM000664.2:g.216464603C>T	GRCh38
NC_000002.11:g.217329326C>T , CM000664.1:g.217329326C>T	GRCh37
NC_000002.10:g.217037571C>T	NCBI36
NG_009771.1:g.57190C>T , LRG_108:g.57190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.2077C>T MANE Select	NP_054859.2:p.Gln693Ter
ENST00000357276.9:c.2077C>T MANE Select	ENSP00000349823.4:p.Gln693Ter
NM_001127207.1:c.2077C>T	NP_001120679.1:p.Gln693Ter
NM_001127207.2:c.2077C>T	NP_001120679.1:p.Gln693Ter
NM_014140.3:c.2077C>T , LRG_108t1:c.2077C>T	NP_054859.2:p.Gln693Ter
ENST00000357276.8:c.2077C>T	ENSP00000349823.4:p.Gln693Ter
ENST00000358207.9:c.2077C>T	ENSP00000350940.5:p.Gln693Ter
ENST00000392128.6:c.1603C>T	ENSP00000375974.2:p.Gln535Ter
ENST00000425815.6:c.2077C>T	ENSP00000394410.2:p.Gln693Ter
ENST00000430374.6:c.2077C>T	ENSP00000405077.2:p.Gln693Ter
ENST00000444508.6:c.2077C>T	ENSP00000398969.2:p.Gln693Ter
ENST00000697898.1:n.2438C>T
ENST00000697899.1:c.1843C>T	ENSP00000513470.1:p.Gln615Ter
ENST00000697901.1:c.*935C>T	ENSP00000513471.1:n.*935C>T
ENST00000697903.1:c.*564C>T	ENSP00000513472.1:n.*564C>T
ENST00000697904.1:c.*564C>T	ENSP00000513473.1:n.*564C>T
ENST00000697905.1:c.*564C>T	ENSP00000513474.1:n.*564C>T
ENST00000697906.1:c.1843C>T	ENSP00000513475.1:p.Gln615Ter
ENST00000697907.1:c.*935C>T	ENSP00000513476.1:n.*935C>T
ENST00000697908.1:n.1874C>T
ENST00000697909.1:n.969C>T
XM_005246631.2:c.2077C>T	XP_005246688.1:p.Gln693Ter
XM_005246632.1:c.2077C>T	XP_005246689.1:p.Gln693Ter
XM_005246632.2:c.2077C>T	XP_005246689.1:p.Gln693Ter
XM_006712557.1:c.2011C>T	XP_006712620.1:p.Gln671Ter
XM_017004228.2:c.1165C>T	XP_016859717.1:p.Gln389Ter