Canonical Allele Identifier: CA2259640483

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037059265
• gnomAD v4: 17-40628759-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628759T>G , CM000679.2:g.40628759T>G	GRCh38
NC_000017.10:g.38785011T>G , CM000679.1:g.38785011T>G	GRCh37
NC_000017.9:g.36038537T>G	NCBI36
NG_032163.1:g.24093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*824A>C	ENSP00000466608.2:n.*824A>C
ENST00000348513.12:c.*26A>C MANE Select	ENSP00000323967.6:n.*26A>C
ENST00000377808.9:c.*249A>C	ENSP00000367039.4:n.*249A>C
ENST00000400122.8:c.*249A>C	ENSP00000411607.2:n.*249A>C
ENST00000469334.6:n.1860A>C
ENST00000578112.6:c.*1059A>C	ENSP00000464501.1:n.*1059A>C
ENST00000580419.6:c.*241A>C	ENSP00000462475.2:n.*241A>C
ENST00000642576.1:n.2405A>C
ENST00000643030.1:n.1885A>C
ENST00000643255.1:c.*3326A>C	ENSP00000493957.1:n.*3326A>C
ENST00000643318.1:c.*26A>C	ENSP00000494771.1:n.*26A>C
ENST00000643378.1:n.1817A>C
ENST00000643683.1:c.*26A>C	ENSP00000496094.1:n.*26A>C
ENST00000643893.1:n.1555A>C
ENST00000644443.1:n.3150A>C
ENST00000644523.1:n.1308A>C
ENST00000644527.1:c.*26A>C	ENSP00000493974.1:n.*26A>C
ENST00000644701.1:c.*249A>C	ENSP00000496097.1:n.*249A>C
ENST00000644909.1:c.*531A>C	ENSP00000493649.1:n.*531A>C
ENST00000645152.1:n.1925A>C
ENST00000645227.1:c.*950A>C	ENSP00000495021.1:n.*950A>C
ENST00000646242.1:n.7174A>C
ENST00000646283.1:c.*26A>C	ENSP00000494537.1:n.*26A>C
ENST00000646401.1:n.2628A>C
ENST00000646856.1:c.*1138A>C	ENSP00000494505.1:n.*1138A>C
ENST00000647294.1:c.*1192A>C	ENSP00000494815.1:n.*1192A>C
ENST00000647508.1:c.*26A>C	ENSP00000496445.1:n.*26A>C
ENST00000647515.1:c.*793A>C	ENSP00000495857.1:n.*793A>C
ENST00000348513.10:c.*26A>C	ENSP00000323967.6:n.*26A>C
ENST00000431889.6:c.*26A>C	ENSP00000445370.1:n.*26A>C
ENST00000469334.5:n.1849A>C
ENST00000578112.5:c.*1059A>C	ENSP00000464501.1:n.*1059A>C
NM_003079.4:c.*26A>C	NP_003070.3:n.*26A>C
NM_003079.5:c.*26A>C MANE Select	NP_003070.3:n.*26A>C