Canonical Allele Identifier: CA2576261811
Gene: SMARCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40628711A>G , CM000679.2:g.40628711A>G GRCh38
NC_000017.10:g.38784963A>G , CM000679.1:g.38784963A>G GRCh37
NC_000017.9:g.36038489A>G NCBI36
NG_032163.1:g.24141T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264640.9:c.*872T>C ENSP00000466608.2:n.*872T>C
ENST00000348513.12:c.*74T>C MANE Select ENSP00000323967.6:n.*74T>C
ENST00000377808.9:c.*297T>C ENSP00000367039.4:n.*297T>C
ENST00000400122.8:c.*297T>C ENSP00000411607.2:n.*297T>C
ENST00000469334.6:n.1908T>C
ENST00000578112.6:c.*1107T>C ENSP00000464501.1:n.*1107T>C
ENST00000580419.6:c.*289T>C ENSP00000462475.2:n.*289T>C
ENST00000642576.1:n.2453T>C
ENST00000643030.1:n.1933T>C
ENST00000643255.1:c.*3374T>C ENSP00000493957.1:n.*3374T>C
ENST00000643318.1:c.*74T>C ENSP00000494771.1:n.*74T>C
ENST00000643378.1:n.1865T>C
ENST00000643683.1:c.*74T>C ENSP00000496094.1:n.*74T>C
ENST00000643893.1:n.1603T>C
ENST00000644443.1:n.3198T>C
ENST00000644523.1:n.1356T>C
ENST00000644527.1:c.*74T>C ENSP00000493974.1:n.*74T>C
ENST00000644701.1:c.*297T>C ENSP00000496097.1:n.*297T>C
ENST00000644909.1:c.*579T>C ENSP00000493649.1:n.*579T>C
ENST00000645152.1:n.1973T>C
ENST00000645227.1:c.*998T>C ENSP00000495021.1:n.*998T>C
ENST00000646242.1:n.7222T>C
ENST00000646283.1:c.*74T>C ENSP00000494537.1:n.*74T>C
ENST00000646401.1:n.2676T>C
ENST00000646856.1:c.*1186T>C ENSP00000494505.1:n.*1186T>C
ENST00000647294.1:c.*1240T>C ENSP00000494815.1:n.*1240T>C
ENST00000647508.1:c.*74T>C ENSP00000496445.1:n.*74T>C
ENST00000647515.1:c.*841T>C ENSP00000495857.1:n.*841T>C
ENST00000348513.10:c.*74T>C ENSP00000323967.6:n.*74T>C
ENST00000431889.6:c.*74T>C ENSP00000445370.1:n.*74T>C
ENST00000469334.5:n.1897T>C
ENST00000578112.5:c.*1107T>C ENSP00000464501.1:n.*1107T>C
NM_003079.4:c.*74T>C NP_003070.3:n.*74T>C
NM_003079.5:c.*74T>C MANE Select NP_003070.3:n.*74T>C