Canonical Allele Identifier: CA2576261810

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628699-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628699A>T , CM000679.2:g.40628699A>T	GRCh38
NC_000017.10:g.38784951A>T , CM000679.1:g.38784951A>T	GRCh37
NC_000017.9:g.36038477A>T	NCBI36
NG_032163.1:g.24153T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*884T>A	ENSP00000466608.2:n.*884T>A
ENST00000348513.12:c.*86T>A MANE Select	ENSP00000323967.6:n.*86T>A
ENST00000377808.9:c.*309T>A	ENSP00000367039.4:n.*309T>A
ENST00000400122.8:c.*309T>A	ENSP00000411607.2:n.*309T>A
ENST00000469334.6:n.1920T>A
ENST00000578112.6:c.*1119T>A	ENSP00000464501.1:n.*1119T>A
ENST00000580419.6:c.*301T>A	ENSP00000462475.2:n.*301T>A
ENST00000642576.1:n.2465T>A
ENST00000643030.1:n.1945T>A
ENST00000643255.1:c.*3386T>A	ENSP00000493957.1:n.*3386T>A
ENST00000643318.1:c.*86T>A	ENSP00000494771.1:n.*86T>A
ENST00000643378.1:n.1877T>A
ENST00000643683.1:c.*86T>A	ENSP00000496094.1:n.*86T>A
ENST00000643893.1:n.1615T>A
ENST00000644443.1:n.3210T>A
ENST00000644523.1:n.1368T>A
ENST00000644527.1:c.*86T>A	ENSP00000493974.1:n.*86T>A
ENST00000644701.1:c.*309T>A	ENSP00000496097.1:n.*309T>A
ENST00000644909.1:c.*591T>A	ENSP00000493649.1:n.*591T>A
ENST00000645152.1:n.1985T>A
ENST00000645227.1:c.*1010T>A	ENSP00000495021.1:n.*1010T>A
ENST00000646242.1:n.7234T>A
ENST00000646283.1:c.*86T>A	ENSP00000494537.1:n.*86T>A
ENST00000646401.1:n.2688T>A
ENST00000646856.1:c.*1198T>A	ENSP00000494505.1:n.*1198T>A
ENST00000647294.1:c.*1252T>A	ENSP00000494815.1:n.*1252T>A
ENST00000647508.1:c.*86T>A	ENSP00000496445.1:n.*86T>A
ENST00000647515.1:c.*853T>A	ENSP00000495857.1:n.*853T>A
ENST00000348513.10:c.*86T>A	ENSP00000323967.6:n.*86T>A
ENST00000431889.6:c.*86T>A	ENSP00000445370.1:n.*86T>A
ENST00000469334.5:n.1909T>A
ENST00000578112.5:c.*1119T>A	ENSP00000464501.1:n.*1119T>A
NM_003079.4:c.*86T>A	NP_003070.3:n.*86T>A
NM_003079.5:c.*86T>A MANE Select	NP_003070.3:n.*86T>A