Canonical Allele Identifier: CA1327848727

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477130C= , CM000664.2:g.216477130C=	GRCh38
NC_000002.11:g.217341853C= , CM000664.1:g.217341853C=	GRCh37
NC_000002.10:g.217050098C=	NCBI36
NG_009771.1:g.69717C= , LRG_108:g.69717C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2449C=	ENSP00000394410.2:p.Arg817=
ENST00000430374.6:c.2449C=	ENSP00000405077.2:p.Arg817=
ENST00000444508.6:c.2449C=	ENSP00000398969.2:p.Arg817=
ENST00000697899.1:c.2215C=	ENSP00000513470.1:p.Arg739=
ENST00000697901.1:c.*1204C=	ENSP00000513471.1:n.*1204C=
ENST00000697903.1:c.*936C=	ENSP00000513472.1:n.*936C=
ENST00000697904.1:c.*936C=	ENSP00000513473.1:n.*936C=
ENST00000697905.1:c.*936C=	ENSP00000513474.1:n.*936C=
ENST00000697906.1:c.2215C=	ENSP00000513475.1:p.Arg739=
ENST00000697907.1:c.*1307C=	ENSP00000513476.1:n.*1307C=
ENST00000697908.1:n.2143C=
ENST00000697909.1:n.1341C=
ENST00000697910.1:n.846C=
ENST00000697911.1:n.755C=
ENST00000357276.9:c.2449C= MANE Select	ENSP00000349823.4:p.Arg817=
ENST00000357276.8:c.2449C=	ENSP00000349823.4:p.Arg817=
ENST00000358207.9:c.2449C=	ENSP00000350940.5:p.Arg817=
ENST00000392128.6:c.1975C=	ENSP00000375974.2:p.Arg659=
NM_001127207.1:c.2449C=	NP_001120679.1:p.Arg817=
NM_014140.3:c.2449C= , LRG_108t1:c.2449C=	NP_054859.2:p.Arg817=
XM_005246631.2:c.2449C=	XP_005246688.1:p.Arg817=
XM_005246632.1:c.2449C=	XP_005246689.1:p.Arg817=
XM_006712557.1:c.2383C=	XP_006712620.1:p.Arg795=
XM_005246632.2:c.2449C=	XP_005246689.1:p.Arg817=
XM_017004228.2:c.1537C=	XP_016859717.1:p.Arg513=
NM_001127207.2:c.2449C=	NP_001120679.1:p.Arg817=
NM_014140.4:c.2449C= MANE Select	NP_054859.2:p.Arg817=