Canonical Allele Identifier: CA350504725

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216477137-A-T
• MyVariant Identifiers: chr2:g.217341860A>T (hg19) ; chr2:g.216477137A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477137A>T , CM000664.2:g.216477137A>T	GRCh38
NC_000002.11:g.217341860A>T , CM000664.1:g.217341860A>T	GRCh37
NC_000002.10:g.217050105A>T	NCBI36
NG_009771.1:g.69724A>T , LRG_108:g.69724A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2456A>T	ENSP00000394410.2:p.His819Leu
ENST00000430374.6:c.2456A>T	ENSP00000405077.2:p.His819Leu
ENST00000444508.6:c.2456A>T	ENSP00000398969.2:p.His819Leu
ENST00000697899.1:c.2222A>T	ENSP00000513470.1:p.His741Leu
ENST00000697901.1:c.*1211A>T	ENSP00000513471.1:n.*1211A>T
ENST00000697903.1:c.*943A>T	ENSP00000513472.1:n.*943A>T
ENST00000697904.1:c.*943A>T	ENSP00000513473.1:n.*943A>T
ENST00000697905.1:c.*943A>T	ENSP00000513474.1:n.*943A>T
ENST00000697906.1:c.2222A>T	ENSP00000513475.1:p.His741Leu
ENST00000697907.1:c.*1314A>T	ENSP00000513476.1:n.*1314A>T
ENST00000697908.1:n.2150A>T
ENST00000697909.1:n.1348A>T
ENST00000697910.1:n.853A>T
ENST00000697911.1:n.762A>T
ENST00000357276.9:c.2456A>T MANE Select	ENSP00000349823.4:p.His819Leu
ENST00000357276.8:c.2456A>T	ENSP00000349823.4:p.His819Leu
ENST00000358207.9:c.2456A>T	ENSP00000350940.5:p.His819Leu
ENST00000392128.6:c.1982A>T	ENSP00000375974.2:p.His661Leu
NM_001127207.1:c.2456A>T	NP_001120679.1:p.His819Leu
NM_014140.3:c.2456A>T , LRG_108t1:c.2456A>T	NP_054859.2:p.His819Leu
XM_005246631.2:c.2456A>T	XP_005246688.1:p.His819Leu
XM_005246632.1:c.2456A>T	XP_005246689.1:p.His819Leu
XM_006712557.1:c.2390A>T	XP_006712620.1:p.His797Leu
XM_005246632.2:c.2456A>T	XP_005246689.1:p.His819Leu
XM_017004228.2:c.1544A>T	XP_016859717.1:p.His515Leu
NM_001127207.2:c.2456A>T	NP_001120679.1:p.His819Leu
NM_014140.4:c.2456A>T MANE Select	NP_054859.2:p.His819Leu