Canonical Allele Identifier: CA2663035682

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216483020-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483020G>C , CM000664.2:g.216483020G>C	GRCh38
NC_000002.11:g.217347743G>C , CM000664.1:g.217347743G>C	GRCh37
NC_000002.10:g.217055988G>C	NCBI36
NG_009771.1:g.75607G>C , LRG_108:g.75607G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.*43G>C	ENSP00000394410.2:n.*43G>C
ENST00000430374.6:c.*43G>C	ENSP00000405077.2:n.*43G>C
ENST00000444508.6:c.*43G>C	ENSP00000398969.2:n.*43G>C
ENST00000697899.1:c.*43G>C	ENSP00000513470.1:n.*43G>C
ENST00000697903.1:c.*1395G>C	ENSP00000513472.1:n.*1395G>C
ENST00000697904.1:c.*1395G>C	ENSP00000513473.1:n.*1395G>C
ENST00000697905.1:c.*1395G>C	ENSP00000513474.1:n.*1395G>C
ENST00000697906.1:c.*43G>C	ENSP00000513475.1:n.*43G>C
ENST00000697907.1:c.*1766G>C	ENSP00000513476.1:n.*1766G>C
ENST00000697909.1:n.1800G>C
ENST00000697910.1:n.1305G>C
ENST00000357276.9:c.*43G>C MANE Select	ENSP00000349823.4:n.*43G>C
ENST00000357276.8:c.*43G>C	ENSP00000349823.4:n.*43G>C
NM_001127207.1:c.*43G>C	NP_001120679.1:n.*43G>C
NM_014140.3:c.*43G>C , LRG_108t1:c.*43G>C	NP_054859.2:n.*43G>C
XM_005246631.2:c.*43G>C	XP_005246688.1:n.*43G>C
XM_005246632.1:c.*43G>C	XP_005246689.1:n.*43G>C
XM_006712557.1:c.*43G>C	XP_006712620.1:n.*43G>C
XM_005246632.2:c.*43G>C	XP_005246689.1:n.*43G>C
XM_017004228.2:c.*43G>C	XP_016859717.1:n.*43G>C
NM_001127207.2:c.*43G>C	NP_001120679.1:n.*43G>C
NM_014140.4:c.*43G>C MANE Select	NP_054859.2:n.*43G>C