Canonical Allele Identifier: CA2637750014

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628460-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628460T>G , CM000679.2:g.40628460T>G	GRCh38
NC_000017.10:g.38784712T>G , CM000679.1:g.38784712T>G	GRCh37
NC_000017.9:g.36038238T>G	NCBI36
NG_032163.1:g.24392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1123A>C	ENSP00000466608.2:n.*1123A>C
ENST00000348513.12:c.*325A>C MANE Select	ENSP00000323967.6:n.*325A>C
ENST00000377808.9:c.*548A>C	ENSP00000367039.4:n.*548A>C
ENST00000400122.8:c.*548A>C	ENSP00000411607.2:n.*548A>C
ENST00000469334.6:n.2159A>C
ENST00000578112.6:c.*1358A>C	ENSP00000464501.1:n.*1358A>C
ENST00000580419.6:c.*540A>C	ENSP00000462475.2:n.*540A>C
ENST00000642576.1:n.2704A>C
ENST00000643030.1:n.2184A>C
ENST00000643255.1:c.*3625A>C	ENSP00000493957.1:n.*3625A>C
ENST00000643318.1:c.*325A>C	ENSP00000494771.1:n.*325A>C
ENST00000643378.1:n.2116A>C
ENST00000643683.1:c.*325A>C	ENSP00000496094.1:n.*325A>C
ENST00000643893.1:n.1854A>C
ENST00000644443.1:n.3449A>C
ENST00000644523.1:n.1607A>C
ENST00000644527.1:c.*325A>C	ENSP00000493974.1:n.*325A>C
ENST00000644701.1:c.*548A>C	ENSP00000496097.1:n.*548A>C
ENST00000644909.1:c.*830A>C	ENSP00000493649.1:n.*830A>C
ENST00000645152.1:n.2224A>C
ENST00000645227.1:c.*1249A>C	ENSP00000495021.1:n.*1249A>C
ENST00000646242.1:n.7473A>C
ENST00000646283.1:c.*325A>C	ENSP00000494537.1:n.*325A>C
ENST00000646401.1:n.2927A>C
ENST00000646856.1:c.*1437A>C	ENSP00000494505.1:n.*1437A>C
ENST00000647294.1:c.*1491A>C	ENSP00000494815.1:n.*1491A>C
ENST00000647508.1:c.*325A>C	ENSP00000496445.1:n.*325A>C
ENST00000647515.1:c.*1092A>C	ENSP00000495857.1:n.*1092A>C
ENST00000348513.10:c.*325A>C	ENSP00000323967.6:n.*325A>C
ENST00000578112.5:c.*1358A>C	ENSP00000464501.1:n.*1358A>C
NM_003079.4:c.*325A>C	NP_003070.3:n.*325A>C
NM_003079.5:c.*325A>C MANE Select	NP_003070.3:n.*325A>C