Canonical Allele Identifier: CA431165409

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216412610-G-C
• MyVariant Identifiers: chr2:g.217277333G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412610G>C , CM000664.2:g.216412610G>C	GRCh38
NC_000002.11:g.217277333G>C , CM000664.1:g.217277333G>C	GRCh37
NC_000002.10:g.216985578G>C	NCBI36
NG_009771.1:g.5197G>C , LRG_108:g.5197G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.-203G>C	ENSP00000394410.2:n.-203G>C
ENST00000430374.6:c.-96+7G>C	ENSP00000405077.2:n.-96+7G>C
ENST00000444508.6:c.-220G>C	ENSP00000398969.2:n.-220G>C
ENST00000697898.1:n.228G>C
ENST00000697899.1:c.-134G>C	ENSP00000513470.1:n.-134G>C
ENST00000697900.1:n.143G>C
ENST00000697901.1:c.-134G>C	ENSP00000513471.1:n.-134G>C
ENST00000697902.1:n.99G>C
ENST00000697903.1:c.-134G>C	ENSP00000513472.1:n.-134G>C
ENST00000357276.9:c.-134G>C MANE Select	ENSP00000349823.4:n.-134G>C
ENST00000357276.8:c.-134G>C	ENSP00000349823.4:n.-134G>C
ENST00000425815.5:c.-203G>C	ENSP00000394410.1:n.-203G>C
ENST00000430374.5:c.-96+7G>C	ENSP00000405077.1:n.-96+7G>C
ENST00000444508.5:c.-220G>C	ENSP00000398969.1:n.-220G>C
NM_014140.3:c.-134G>C , LRG_108t1:c.-134G>C	NP_054859.2:n.-134G>C
XM_005246631.2:c.-96+7G>C	XP_005246688.1:n.-96+7G>C
XM_005246632.1:c.-220G>C	XP_005246689.1:n.-220G>C
XM_006712557.1:c.-134G>C	XP_006712620.1:n.-134G>C
XM_005246632.2:c.-220G>C	XP_005246689.1:n.-220G>C
NM_014140.4:c.-134G>C MANE Select	NP_054859.2:n.-134G>C