Canonical Allele Identifier: CA431403457

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216482927-A-C
• MyVariant Identifiers: chr2:g.217347650A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482927A>C , CM000664.2:g.216482927A>C	GRCh38
NC_000002.11:g.217347650A>C , CM000664.1:g.217347650A>C	GRCh37
NC_000002.10:g.217055895A>C	NCBI36
NG_009771.1:g.75514A>C , LRG_108:g.75514A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2815A>C	ENSP00000394410.2:p.Arg939=
ENST00000430374.6:c.2815A>C	ENSP00000405077.2:p.Arg939=
ENST00000444508.6:c.2815A>C	ENSP00000398969.2:p.Arg939=
ENST00000697899.1:c.2581A>C	ENSP00000513470.1:p.Arg861=
ENST00000697901.1:c.*1570A>C	ENSP00000513471.1:n.*1570A>C
ENST00000697903.1:c.*1302A>C	ENSP00000513472.1:n.*1302A>C
ENST00000697904.1:c.*1302A>C	ENSP00000513473.1:n.*1302A>C
ENST00000697905.1:c.*1302A>C	ENSP00000513474.1:n.*1302A>C
ENST00000697906.1:c.2581A>C	ENSP00000513475.1:p.Arg861=
ENST00000697907.1:c.*1673A>C	ENSP00000513476.1:n.*1673A>C
ENST00000697909.1:n.1707A>C
ENST00000697910.1:n.1212A>C
ENST00000357276.9:c.2815A>C MANE Select	ENSP00000349823.4:p.Arg939=
ENST00000357276.8:c.2815A>C	ENSP00000349823.4:p.Arg939=
ENST00000358207.9:c.2815A>C	ENSP00000350940.5:p.Arg939=
ENST00000392128.6:c.2341A>C	ENSP00000375974.2:p.Arg781=
NM_001127207.1:c.2815A>C	NP_001120679.1:p.Arg939=
NM_014140.3:c.2815A>C , LRG_108t1:c.2815A>C	NP_054859.2:p.Arg939=
XM_005246631.2:c.2815A>C	XP_005246688.1:p.Arg939=
XM_005246632.1:c.2815A>C	XP_005246689.1:p.Arg939=
XM_006712557.1:c.2749A>C	XP_006712620.1:p.Arg917=
XM_005246632.2:c.2815A>C	XP_005246689.1:p.Arg939=
XM_017004228.2:c.1903A>C	XP_016859717.1:p.Arg635=
NM_001127207.2:c.2815A>C	NP_001120679.1:p.Arg939=
NM_014140.4:c.2815A>C MANE Select	NP_054859.2:p.Arg939=