Canonical Allele Identifier: CA350500109

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216432785G>C , CM000664.2:g.216432785G>C	GRCh38
NC_000002.11:g.217297508G>C , CM000664.1:g.217297508G>C	GRCh37
NC_000002.10:g.217005753G>C	NCBI36
NG_009771.1:g.25372G>C , LRG_108:g.25372G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1402G>C MANE Select	NP_054859.2:p.Ala468Pro
ENST00000357276.9:c.1402G>C MANE Select	ENSP00000349823.4:p.Ala468Pro
NM_001127207.1:c.1402G>C	NP_001120679.1:p.Ala468Pro
NM_001127207.2:c.1402G>C	NP_001120679.1:p.Ala468Pro
NM_014140.3:c.1402G>C , LRG_108t1:c.1402G>C	NP_054859.2:p.Ala468Pro
ENST00000357276.8:c.1402G>C	ENSP00000349823.4:p.Ala468Pro
ENST00000358207.9:c.1402G>C	ENSP00000350940.5:p.Ala468Pro
ENST00000392128.6:c.994G>C	ENSP00000375974.2:p.Ala332Pro
ENST00000425815.6:c.1402G>C	ENSP00000394410.2:p.Ala468Pro
ENST00000430374.6:c.1402G>C	ENSP00000405077.2:p.Ala468Pro
ENST00000444508.6:c.1402G>C	ENSP00000398969.2:p.Ala468Pro
ENST00000445153.1:c.75G>C
ENST00000697898.1:n.1763G>C
ENST00000697899.1:c.1168G>C	ENSP00000513470.1:p.Ala390Pro
ENST00000697900.1:n.1611-2553G>C
ENST00000697901.1:c.*260G>C	ENSP00000513471.1:n.*260G>C
ENST00000697902.1:n.1634G>C
ENST00000697903.1:c.1335-2553G>C	ENSP00000513472.1:n.1335-2553G>C
ENST00000697904.1:c.1335-2553G>C	ENSP00000513473.1:n.1335-2553G>C
ENST00000697905.1:c.1335-2553G>C	ENSP00000513474.1:n.1335-2553G>C
ENST00000697906.1:c.1168G>C	ENSP00000513475.1:p.Ala390Pro
ENST00000697907.1:c.*260G>C	ENSP00000513476.1:n.*260G>C
ENST00000697908.1:n.1199G>C
XM_005246631.2:c.1402G>C	XP_005246688.1:p.Ala468Pro
XM_005246632.1:c.1402G>C	XP_005246689.1:p.Ala468Pro
XM_005246632.2:c.1402G>C	XP_005246689.1:p.Ala468Pro
XM_006712557.1:c.1402G>C	XP_006712620.1:p.Ala468Pro
XM_017004228.2:c.490G>C	XP_016859717.1:p.Ala164Pro