Canonical Allele Identifier: CA2637750212

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628728-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628728C>A , CM000679.2:g.40628728C>A	GRCh38
NC_000017.10:g.38784980C>A , CM000679.1:g.38784980C>A	GRCh37
NC_000017.9:g.36038506C>A	NCBI36
NG_032163.1:g.24124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*855G>T	ENSP00000466608.2:n.*855G>T
ENST00000348513.12:c.*57G>T MANE Select	ENSP00000323967.6:n.*57G>T
ENST00000377808.9:c.*280G>T	ENSP00000367039.4:n.*280G>T
ENST00000400122.8:c.*280G>T	ENSP00000411607.2:n.*280G>T
ENST00000469334.6:n.1891G>T
ENST00000578112.6:c.*1090G>T	ENSP00000464501.1:n.*1090G>T
ENST00000580419.6:c.*272G>T	ENSP00000462475.2:n.*272G>T
ENST00000642576.1:n.2436G>T
ENST00000643030.1:n.1916G>T
ENST00000643255.1:c.*3357G>T	ENSP00000493957.1:n.*3357G>T
ENST00000643318.1:c.*57G>T	ENSP00000494771.1:n.*57G>T
ENST00000643378.1:n.1848G>T
ENST00000643683.1:c.*57G>T	ENSP00000496094.1:n.*57G>T
ENST00000643893.1:n.1586G>T
ENST00000644443.1:n.3181G>T
ENST00000644523.1:n.1339G>T
ENST00000644527.1:c.*57G>T	ENSP00000493974.1:n.*57G>T
ENST00000644701.1:c.*280G>T	ENSP00000496097.1:n.*280G>T
ENST00000644909.1:c.*562G>T	ENSP00000493649.1:n.*562G>T
ENST00000645152.1:n.1956G>T
ENST00000645227.1:c.*981G>T	ENSP00000495021.1:n.*981G>T
ENST00000646242.1:n.7205G>T
ENST00000646283.1:c.*57G>T	ENSP00000494537.1:n.*57G>T
ENST00000646401.1:n.2659G>T
ENST00000646856.1:c.*1169G>T	ENSP00000494505.1:n.*1169G>T
ENST00000647294.1:c.*1223G>T	ENSP00000494815.1:n.*1223G>T
ENST00000647508.1:c.*57G>T	ENSP00000496445.1:n.*57G>T
ENST00000647515.1:c.*824G>T	ENSP00000495857.1:n.*824G>T
ENST00000348513.10:c.*57G>T	ENSP00000323967.6:n.*57G>T
ENST00000431889.6:c.*57G>T	ENSP00000445370.1:n.*57G>T
ENST00000469334.5:n.1880G>T
ENST00000578112.5:c.*1090G>T	ENSP00000464501.1:n.*1090G>T
NM_003079.4:c.*57G>T	NP_003070.3:n.*57G>T
NM_003079.5:c.*57G>T MANE Select	NP_003070.3:n.*57G>T