Canonical Allele Identifier: CA2259640352

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037056329

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628385G>A , CM000679.2:g.40628385G>A	GRCh38
NC_000017.10:g.38784637G>A , CM000679.1:g.38784637G>A	GRCh37
NC_000017.9:g.36038163G>A	NCBI36
NG_032163.1:g.24467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1198C>T	ENSP00000466608.2:n.*1198C>T
ENST00000348513.12:c.*400C>T MANE Select	ENSP00000323967.6:n.*400C>T
ENST00000377808.9:c.*623C>T	ENSP00000367039.4:n.*623C>T
ENST00000400122.8:c.*623C>T	ENSP00000411607.2:n.*623C>T
ENST00000469334.6:n.2234C>T
ENST00000578112.6:c.*1433C>T	ENSP00000464501.1:n.*1433C>T
ENST00000580419.6:c.*615C>T	ENSP00000462475.2:n.*615C>T
ENST00000642576.1:n.2779C>T
ENST00000643030.1:n.2259C>T
ENST00000643255.1:c.*3700C>T	ENSP00000493957.1:n.*3700C>T
ENST00000643318.1:c.*400C>T	ENSP00000494771.1:n.*400C>T
ENST00000643378.1:n.2191C>T
ENST00000643683.1:c.*400C>T	ENSP00000496094.1:n.*400C>T
ENST00000643893.1:n.1929C>T
ENST00000644443.1:n.3524C>T
ENST00000644523.1:n.1682C>T
ENST00000644527.1:c.*400C>T	ENSP00000493974.1:n.*400C>T
ENST00000644701.1:c.*623C>T	ENSP00000496097.1:n.*623C>T
ENST00000644909.1:c.*905C>T	ENSP00000493649.1:n.*905C>T
ENST00000645152.1:n.2299C>T
ENST00000645227.1:c.*1324C>T	ENSP00000495021.1:n.*1324C>T
ENST00000646242.1:n.7548C>T
ENST00000646283.1:c.*400C>T	ENSP00000494537.1:n.*400C>T
ENST00000646401.1:n.3002C>T
ENST00000646856.1:c.*1512C>T	ENSP00000494505.1:n.*1512C>T
ENST00000647294.1:c.*1566C>T	ENSP00000494815.1:n.*1566C>T
ENST00000647508.1:c.*400C>T	ENSP00000496445.1:n.*400C>T
ENST00000647515.1:c.*1167C>T	ENSP00000495857.1:n.*1167C>T
ENST00000348513.10:c.*400C>T	ENSP00000323967.6:n.*400C>T
ENST00000578112.5:c.*1433C>T	ENSP00000464501.1:n.*1433C>T
NM_003079.4:c.*400C>T	NP_003070.3:n.*400C>T
NM_003079.5:c.*400C>T MANE Select	NP_003070.3:n.*400C>T