Canonical Allele Identifier: CA2637750095

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628588-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628588A>G , CM000679.2:g.40628588A>G	GRCh38
NC_000017.10:g.38784840A>G , CM000679.1:g.38784840A>G	GRCh37
NC_000017.9:g.36038366A>G	NCBI36
NG_032163.1:g.24264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*995T>C	ENSP00000466608.2:n.*995T>C
ENST00000348513.12:c.*197T>C MANE Select	ENSP00000323967.6:n.*197T>C
ENST00000377808.9:c.*420T>C	ENSP00000367039.4:n.*420T>C
ENST00000400122.8:c.*420T>C	ENSP00000411607.2:n.*420T>C
ENST00000469334.6:n.2031T>C
ENST00000578112.6:c.*1230T>C	ENSP00000464501.1:n.*1230T>C
ENST00000580419.6:c.*412T>C	ENSP00000462475.2:n.*412T>C
ENST00000642576.1:n.2576T>C
ENST00000643030.1:n.2056T>C
ENST00000643255.1:c.*3497T>C	ENSP00000493957.1:n.*3497T>C
ENST00000643318.1:c.*197T>C	ENSP00000494771.1:n.*197T>C
ENST00000643378.1:n.1988T>C
ENST00000643683.1:c.*197T>C	ENSP00000496094.1:n.*197T>C
ENST00000643893.1:n.1726T>C
ENST00000644443.1:n.3321T>C
ENST00000644523.1:n.1479T>C
ENST00000644527.1:c.*197T>C	ENSP00000493974.1:n.*197T>C
ENST00000644701.1:c.*420T>C	ENSP00000496097.1:n.*420T>C
ENST00000644909.1:c.*702T>C	ENSP00000493649.1:n.*702T>C
ENST00000645152.1:n.2096T>C
ENST00000645227.1:c.*1121T>C	ENSP00000495021.1:n.*1121T>C
ENST00000646242.1:n.7345T>C
ENST00000646283.1:c.*197T>C	ENSP00000494537.1:n.*197T>C
ENST00000646401.1:n.2799T>C
ENST00000646856.1:c.*1309T>C	ENSP00000494505.1:n.*1309T>C
ENST00000647294.1:c.*1363T>C	ENSP00000494815.1:n.*1363T>C
ENST00000647508.1:c.*197T>C	ENSP00000496445.1:n.*197T>C
ENST00000647515.1:c.*964T>C	ENSP00000495857.1:n.*964T>C
ENST00000348513.10:c.*197T>C	ENSP00000323967.6:n.*197T>C
ENST00000431889.6:c.*197T>C	ENSP00000445370.1:n.*197T>C
ENST00000469334.5:n.2020T>C
ENST00000578112.5:c.*1230T>C	ENSP00000464501.1:n.*1230T>C
NM_003079.4:c.*197T>C	NP_003070.3:n.*197T>C
NM_003079.5:c.*197T>C MANE Select	NP_003070.3:n.*197T>C