Canonical Allele Identifier: CA2637750094

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628587-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628587A>G , CM000679.2:g.40628587A>G	GRCh38
NC_000017.10:g.38784839A>G , CM000679.1:g.38784839A>G	GRCh37
NC_000017.9:g.36038365A>G	NCBI36
NG_032163.1:g.24265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*996T>C	ENSP00000466608.2:n.*996T>C
ENST00000348513.12:c.*198T>C MANE Select	ENSP00000323967.6:n.*198T>C
ENST00000377808.9:c.*421T>C	ENSP00000367039.4:n.*421T>C
ENST00000400122.8:c.*421T>C	ENSP00000411607.2:n.*421T>C
ENST00000469334.6:n.2032T>C
ENST00000578112.6:c.*1231T>C	ENSP00000464501.1:n.*1231T>C
ENST00000580419.6:c.*413T>C	ENSP00000462475.2:n.*413T>C
ENST00000642576.1:n.2577T>C
ENST00000643030.1:n.2057T>C
ENST00000643255.1:c.*3498T>C	ENSP00000493957.1:n.*3498T>C
ENST00000643318.1:c.*198T>C	ENSP00000494771.1:n.*198T>C
ENST00000643378.1:n.1989T>C
ENST00000643683.1:c.*198T>C	ENSP00000496094.1:n.*198T>C
ENST00000643893.1:n.1727T>C
ENST00000644443.1:n.3322T>C
ENST00000644523.1:n.1480T>C
ENST00000644527.1:c.*198T>C	ENSP00000493974.1:n.*198T>C
ENST00000644701.1:c.*421T>C	ENSP00000496097.1:n.*421T>C
ENST00000644909.1:c.*703T>C	ENSP00000493649.1:n.*703T>C
ENST00000645152.1:n.2097T>C
ENST00000645227.1:c.*1122T>C	ENSP00000495021.1:n.*1122T>C
ENST00000646242.1:n.7346T>C
ENST00000646283.1:c.*198T>C	ENSP00000494537.1:n.*198T>C
ENST00000646401.1:n.2800T>C
ENST00000646856.1:c.*1310T>C	ENSP00000494505.1:n.*1310T>C
ENST00000647294.1:c.*1364T>C	ENSP00000494815.1:n.*1364T>C
ENST00000647508.1:c.*198T>C	ENSP00000496445.1:n.*198T>C
ENST00000647515.1:c.*965T>C	ENSP00000495857.1:n.*965T>C
ENST00000348513.10:c.*198T>C	ENSP00000323967.6:n.*198T>C
ENST00000431889.6:c.*198T>C	ENSP00000445370.1:n.*198T>C
ENST00000469334.5:n.2021T>C
ENST00000578112.5:c.*1231T>C	ENSP00000464501.1:n.*1231T>C
NM_003079.4:c.*198T>C	NP_003070.3:n.*198T>C
NM_003079.5:c.*198T>C MANE Select	NP_003070.3:n.*198T>C