Canonical Allele Identifier: CA2663031169

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216423602-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216423602C>T , CM000664.2:g.216423602C>T	GRCh38
NC_000002.11:g.217288325C>T , CM000664.1:g.217288325C>T	GRCh37
NC_000002.10:g.216996570C>T	NCBI36
NG_009771.1:g.16189C>T , LRG_108:g.16189C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1097-31C>T	ENSP00000394410.2:n.1097-31C>T
ENST00000430374.6:c.1097-31C>T	ENSP00000405077.2:n.1097-31C>T
ENST00000444508.6:c.1097-31C>T	ENSP00000398969.2:n.1097-31C>T
ENST00000697898.1:n.1458-31C>T
ENST00000697899.1:c.863-31C>T	ENSP00000513470.1:n.863-31C>T
ENST00000697900.1:n.1373-31C>T
ENST00000697901.1:c.1101-31C>T	ENSP00000513471.1:n.1101-31C>T
ENST00000697902.1:n.1329-31C>T
ENST00000697903.1:c.1097-31C>T	ENSP00000513472.1:n.1097-31C>T
ENST00000697904.1:c.1097-31C>T	ENSP00000513473.1:n.1097-31C>T
ENST00000697905.1:c.1097-31C>T	ENSP00000513474.1:n.1097-31C>T
ENST00000697906.1:c.863-31C>T	ENSP00000513475.1:n.863-31C>T
ENST00000697907.1:c.1101-31C>T	ENSP00000513476.1:n.1101-31C>T
ENST00000357276.9:c.1097-31C>T MANE Select	ENSP00000349823.4:n.1097-31C>T
ENST00000357276.8:c.1097-31C>T	ENSP00000349823.4:n.1097-31C>T
ENST00000358207.9:c.1097-31C>T	ENSP00000350940.5:n.1097-31C>T
ENST00000392128.6:c.689-31C>T	ENSP00000375974.2:n.689-31C>T
ENST00000412913.1:c.257-31C>T	ENSP00000390248.1:n.257-31C>T
ENST00000427645.5:c.793+3070C>T	ENSP00000392997.1:n.793+3070C>T
NM_001127207.1:c.1097-31C>T	NP_001120679.1:n.1097-31C>T
NM_014140.3:c.1097-31C>T , LRG_108t1:c.1097-31C>T	NP_054859.2:n.1097-31C>T
XM_005246631.2:c.1097-31C>T	XP_005246688.1:n.1097-31C>T
XM_005246632.1:c.1097-31C>T	XP_005246689.1:n.1097-31C>T
XM_006712557.1:c.1097-31C>T	XP_006712620.1:n.1097-31C>T
XM_005246632.2:c.1097-31C>T	XP_005246689.1:n.1097-31C>T
XM_017004228.2:c.185-31C>T	XP_016859717.1:n.185-31C>T
NM_001127207.2:c.1097-31C>T	NP_001120679.1:n.1097-31C>T
NM_014140.4:c.1097-31C>T MANE Select	NP_054859.2:n.1097-31C>T