Canonical Allele Identifier: CA431164478

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217277244A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412521A>C , CM000664.2:g.216412521A>C	GRCh38
NC_000002.11:g.217277244A>C , CM000664.1:g.217277244A>C	GRCh37
NC_000002.10:g.216985489A>C	NCBI36
NG_009771.1:g.5108A>C , LRG_108:g.5108A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.-178A>C	ENSP00000405077.2:n.-178A>C
ENST00000444508.6:c.-309A>C	ENSP00000398969.2:n.-309A>C
ENST00000697898.1:n.139A>C
ENST00000697899.1:c.-223A>C	ENSP00000513470.1:n.-223A>C
ENST00000697900.1:n.54A>C
ENST00000697901.1:c.-223A>C	ENSP00000513471.1:n.-223A>C
ENST00000697902.1:n.10A>C
ENST00000697903.1:c.-223A>C	ENSP00000513472.1:n.-223A>C
ENST00000357276.9:c.-223A>C MANE Select	ENSP00000349823.4:n.-223A>C
ENST00000357276.8:c.-223A>C	ENSP00000349823.4:n.-223A>C
ENST00000430374.5:c.-178A>C	ENSP00000405077.1:n.-178A>C
ENST00000444508.5:c.-309A>C	ENSP00000398969.1:n.-309A>C
NM_014140.3:c.-223A>C , LRG_108t1:c.-223A>C	NP_054859.2:n.-223A>C
XM_005246631.2:c.-178A>C	XP_005246688.1:n.-178A>C
XM_005246632.1:c.-309A>C	XP_005246689.1:n.-309A>C
XM_006712557.1:c.-223A>C	XP_006712620.1:n.-223A>C
NM_014140.4:c.-223A>C MANE Select	NP_054859.2:n.-223A>C