Canonical Allele Identifier: CA399361089

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785114T>C (hg19) ; chr17:g.40628862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628862T>C , CM000679.2:g.40628862T>C	GRCh38
NC_000017.10:g.38785114T>C , CM000679.1:g.38785114T>C	GRCh37
NC_000017.9:g.36038640T>C	NCBI36
NG_032163.1:g.23990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*721A>G	ENSP00000466608.2:n.*721A>G
ENST00000348513.12:c.1159A>G MANE Select	ENSP00000323967.6:p.Thr387Ala
ENST00000377808.9:c.*146A>G	ENSP00000367039.4:n.*146A>G
ENST00000400122.8:c.*146A>G	ENSP00000411607.2:n.*146A>G
ENST00000469334.6:n.1757A>G
ENST00000578044.6:c.949A>G	ENSP00000464511.1:p.Thr317Ala
ENST00000578112.6:c.*956A>G	ENSP00000464501.1:n.*956A>G
ENST00000580419.6:c.*138A>G	ENSP00000462475.2:n.*138A>G
ENST00000642576.1:n.2302A>G
ENST00000643030.1:n.1782A>G
ENST00000643255.1:c.*3223A>G	ENSP00000493957.1:n.*3223A>G
ENST00000643318.1:c.949A>G	ENSP00000494771.1:p.Thr317Ala
ENST00000643378.1:n.1714A>G
ENST00000643683.1:c.1159A>G	ENSP00000496094.1:p.Thr387Ala
ENST00000643893.1:n.1452A>G
ENST00000644443.1:n.3047A>G
ENST00000644523.1:n.1205A>G
ENST00000644527.1:c.931A>G	ENSP00000493974.1:p.Thr311Ala
ENST00000644701.1:c.*146A>G	ENSP00000496097.1:n.*146A>G
ENST00000644909.1:c.*428A>G	ENSP00000493649.1:n.*428A>G
ENST00000645152.1:n.1822A>G
ENST00000645227.1:c.*847A>G	ENSP00000495021.1:n.*847A>G
ENST00000646242.1:n.7071A>G
ENST00000646283.1:c.967A>G	ENSP00000494537.1:p.Thr323Ala
ENST00000646401.1:n.2525A>G
ENST00000646448.1:n.2433A>G
ENST00000646856.1:c.*1035A>G	ENSP00000494505.1:n.*1035A>G
ENST00000647294.1:c.*1089A>G	ENSP00000494815.1:n.*1089A>G
ENST00000647508.1:c.1054A>G	ENSP00000496445.1:p.Thr352Ala
ENST00000647515.1:c.*690A>G	ENSP00000495857.1:n.*690A>G
ENST00000348513.10:c.1159A>G	ENSP00000323967.6:p.Thr387Ala
ENST00000377808.8:c.*146A>G	ENSP00000367039.4:n.*146A>G
ENST00000400122.7:c.*146A>G	ENSP00000411607.2:n.*146A>G
ENST00000431889.6:c.1105A>G	ENSP00000445370.1:p.Thr369Ala
ENST00000469334.5:n.1746A>G
ENST00000476049.1:c.*1507A>G	ENSP00000463483.1:n.*1507A>G
ENST00000578044.5:c.949A>G	ENSP00000464511.1:p.Thr317Ala
ENST00000578112.5:c.*956A>G	ENSP00000464501.1:n.*956A>G
ENST00000580419.5:c.1054A>G	ENSP00000462475.1:p.Thr352Ala
NM_003079.4:c.1159A>G	NP_003070.3:p.Thr387Ala
NM_003079.5:c.1159A>G MANE Select	NP_003070.3:p.Thr387Ala