Canonical Allele Identifier: CA2637750001

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628441-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628441T>C , CM000679.2:g.40628441T>C	GRCh38
NC_000017.10:g.38784693T>C , CM000679.1:g.38784693T>C	GRCh37
NC_000017.9:g.36038219T>C	NCBI36
NG_032163.1:g.24411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1142A>G	ENSP00000466608.2:n.*1142A>G
ENST00000348513.12:c.*344A>G MANE Select	ENSP00000323967.6:n.*344A>G
ENST00000377808.9:c.*567A>G	ENSP00000367039.4:n.*567A>G
ENST00000400122.8:c.*567A>G	ENSP00000411607.2:n.*567A>G
ENST00000469334.6:n.2178A>G
ENST00000578112.6:c.*1377A>G	ENSP00000464501.1:n.*1377A>G
ENST00000580419.6:c.*559A>G	ENSP00000462475.2:n.*559A>G
ENST00000642576.1:n.2723A>G
ENST00000643030.1:n.2203A>G
ENST00000643255.1:c.*3644A>G	ENSP00000493957.1:n.*3644A>G
ENST00000643318.1:c.*344A>G	ENSP00000494771.1:n.*344A>G
ENST00000643378.1:n.2135A>G
ENST00000643683.1:c.*344A>G	ENSP00000496094.1:n.*344A>G
ENST00000643893.1:n.1873A>G
ENST00000644443.1:n.3468A>G
ENST00000644523.1:n.1626A>G
ENST00000644527.1:c.*344A>G	ENSP00000493974.1:n.*344A>G
ENST00000644701.1:c.*567A>G	ENSP00000496097.1:n.*567A>G
ENST00000644909.1:c.*849A>G	ENSP00000493649.1:n.*849A>G
ENST00000645152.1:n.2243A>G
ENST00000645227.1:c.*1268A>G	ENSP00000495021.1:n.*1268A>G
ENST00000646242.1:n.7492A>G
ENST00000646283.1:c.*344A>G	ENSP00000494537.1:n.*344A>G
ENST00000646401.1:n.2946A>G
ENST00000646856.1:c.*1456A>G	ENSP00000494505.1:n.*1456A>G
ENST00000647294.1:c.*1510A>G	ENSP00000494815.1:n.*1510A>G
ENST00000647508.1:c.*344A>G	ENSP00000496445.1:n.*344A>G
ENST00000647515.1:c.*1111A>G	ENSP00000495857.1:n.*1111A>G
ENST00000348513.10:c.*344A>G	ENSP00000323967.6:n.*344A>G
ENST00000578112.5:c.*1377A>G	ENSP00000464501.1:n.*1377A>G
NM_003079.4:c.*344A>G	NP_003070.3:n.*344A>G
NM_003079.5:c.*344A>G MANE Select	NP_003070.3:n.*344A>G