Canonical Allele Identifier: CA2637750020

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628468-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628468C>A , CM000679.2:g.40628468C>A	GRCh38
NC_000017.10:g.38784720C>A , CM000679.1:g.38784720C>A	GRCh37
NC_000017.9:g.36038246C>A	NCBI36
NG_032163.1:g.24384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1115G>T	ENSP00000466608.2:n.*1115G>T
ENST00000348513.12:c.*317G>T MANE Select	ENSP00000323967.6:n.*317G>T
ENST00000377808.9:c.*540G>T	ENSP00000367039.4:n.*540G>T
ENST00000400122.8:c.*540G>T	ENSP00000411607.2:n.*540G>T
ENST00000469334.6:n.2151G>T
ENST00000578112.6:c.*1350G>T	ENSP00000464501.1:n.*1350G>T
ENST00000580419.6:c.*532G>T	ENSP00000462475.2:n.*532G>T
ENST00000642576.1:n.2696G>T
ENST00000643030.1:n.2176G>T
ENST00000643255.1:c.*3617G>T	ENSP00000493957.1:n.*3617G>T
ENST00000643318.1:c.*317G>T	ENSP00000494771.1:n.*317G>T
ENST00000643378.1:n.2108G>T
ENST00000643683.1:c.*317G>T	ENSP00000496094.1:n.*317G>T
ENST00000643893.1:n.1846G>T
ENST00000644443.1:n.3441G>T
ENST00000644523.1:n.1599G>T
ENST00000644527.1:c.*317G>T	ENSP00000493974.1:n.*317G>T
ENST00000644701.1:c.*540G>T	ENSP00000496097.1:n.*540G>T
ENST00000644909.1:c.*822G>T	ENSP00000493649.1:n.*822G>T
ENST00000645152.1:n.2216G>T
ENST00000645227.1:c.*1241G>T	ENSP00000495021.1:n.*1241G>T
ENST00000646242.1:n.7465G>T
ENST00000646283.1:c.*317G>T	ENSP00000494537.1:n.*317G>T
ENST00000646401.1:n.2919G>T
ENST00000646856.1:c.*1429G>T	ENSP00000494505.1:n.*1429G>T
ENST00000647294.1:c.*1483G>T	ENSP00000494815.1:n.*1483G>T
ENST00000647508.1:c.*317G>T	ENSP00000496445.1:n.*317G>T
ENST00000647515.1:c.*1084G>T	ENSP00000495857.1:n.*1084G>T
ENST00000348513.10:c.*317G>T	ENSP00000323967.6:n.*317G>T
ENST00000431889.6:c.*317G>T	ENSP00000445370.1:n.*317G>T
ENST00000578112.5:c.*1350G>T	ENSP00000464501.1:n.*1350G>T
NM_003079.4:c.*317G>T	NP_003070.3:n.*317G>T
NM_003079.5:c.*317G>T MANE Select	NP_003070.3:n.*317G>T