Canonical Allele Identifier: CA2637750104

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628598-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628598C>A , CM000679.2:g.40628598C>A	GRCh38
NC_000017.10:g.38784850C>A , CM000679.1:g.38784850C>A	GRCh37
NC_000017.9:g.36038376C>A	NCBI36
NG_032163.1:g.24254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*985G>T	ENSP00000466608.2:n.*985G>T
ENST00000348513.12:c.*187G>T MANE Select	ENSP00000323967.6:n.*187G>T
ENST00000377808.9:c.*410G>T	ENSP00000367039.4:n.*410G>T
ENST00000400122.8:c.*410G>T	ENSP00000411607.2:n.*410G>T
ENST00000469334.6:n.2021G>T
ENST00000578112.6:c.*1220G>T	ENSP00000464501.1:n.*1220G>T
ENST00000580419.6:c.*402G>T	ENSP00000462475.2:n.*402G>T
ENST00000642576.1:n.2566G>T
ENST00000643030.1:n.2046G>T
ENST00000643255.1:c.*3487G>T	ENSP00000493957.1:n.*3487G>T
ENST00000643318.1:c.*187G>T	ENSP00000494771.1:n.*187G>T
ENST00000643378.1:n.1978G>T
ENST00000643683.1:c.*187G>T	ENSP00000496094.1:n.*187G>T
ENST00000643893.1:n.1716G>T
ENST00000644443.1:n.3311G>T
ENST00000644523.1:n.1469G>T
ENST00000644527.1:c.*187G>T	ENSP00000493974.1:n.*187G>T
ENST00000644701.1:c.*410G>T	ENSP00000496097.1:n.*410G>T
ENST00000644909.1:c.*692G>T	ENSP00000493649.1:n.*692G>T
ENST00000645152.1:n.2086G>T
ENST00000645227.1:c.*1111G>T	ENSP00000495021.1:n.*1111G>T
ENST00000646242.1:n.7335G>T
ENST00000646283.1:c.*187G>T	ENSP00000494537.1:n.*187G>T
ENST00000646401.1:n.2789G>T
ENST00000646856.1:c.*1299G>T	ENSP00000494505.1:n.*1299G>T
ENST00000647294.1:c.*1353G>T	ENSP00000494815.1:n.*1353G>T
ENST00000647508.1:c.*187G>T	ENSP00000496445.1:n.*187G>T
ENST00000647515.1:c.*954G>T	ENSP00000495857.1:n.*954G>T
ENST00000348513.10:c.*187G>T	ENSP00000323967.6:n.*187G>T
ENST00000431889.6:c.*187G>T	ENSP00000445370.1:n.*187G>T
ENST00000469334.5:n.2010G>T
ENST00000578112.5:c.*1220G>T	ENSP00000464501.1:n.*1220G>T
NM_003079.4:c.*187G>T	NP_003070.3:n.*187G>T
NM_003079.5:c.*187G>T MANE Select	NP_003070.3:n.*187G>T