Canonical Allele Identifier: CA2637750230

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628766-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628766A>G , CM000679.2:g.40628766A>G	GRCh38
NC_000017.10:g.38785018A>G , CM000679.1:g.38785018A>G	GRCh37
NC_000017.9:g.36038544A>G	NCBI36
NG_032163.1:g.24086T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*817T>C	ENSP00000466608.2:n.*817T>C
ENST00000348513.12:c.*19T>C MANE Select	ENSP00000323967.6:n.*19T>C
ENST00000377808.9:c.*242T>C	ENSP00000367039.4:n.*242T>C
ENST00000400122.8:c.*242T>C	ENSP00000411607.2:n.*242T>C
ENST00000469334.6:n.1853T>C
ENST00000578112.6:c.*1052T>C	ENSP00000464501.1:n.*1052T>C
ENST00000580419.6:c.*234T>C	ENSP00000462475.2:n.*234T>C
ENST00000642576.1:n.2398T>C
ENST00000643030.1:n.1878T>C
ENST00000643255.1:c.*3319T>C	ENSP00000493957.1:n.*3319T>C
ENST00000643318.1:c.*19T>C	ENSP00000494771.1:n.*19T>C
ENST00000643378.1:n.1810T>C
ENST00000643683.1:c.*19T>C	ENSP00000496094.1:n.*19T>C
ENST00000643893.1:n.1548T>C
ENST00000644443.1:n.3143T>C
ENST00000644523.1:n.1301T>C
ENST00000644527.1:c.*19T>C	ENSP00000493974.1:n.*19T>C
ENST00000644701.1:c.*242T>C	ENSP00000496097.1:n.*242T>C
ENST00000644909.1:c.*524T>C	ENSP00000493649.1:n.*524T>C
ENST00000645152.1:n.1918T>C
ENST00000645227.1:c.*943T>C	ENSP00000495021.1:n.*943T>C
ENST00000646242.1:n.7167T>C
ENST00000646283.1:c.*19T>C	ENSP00000494537.1:n.*19T>C
ENST00000646401.1:n.2621T>C
ENST00000646856.1:c.*1131T>C	ENSP00000494505.1:n.*1131T>C
ENST00000647294.1:c.*1185T>C	ENSP00000494815.1:n.*1185T>C
ENST00000647508.1:c.*19T>C	ENSP00000496445.1:n.*19T>C
ENST00000647515.1:c.*786T>C	ENSP00000495857.1:n.*786T>C
ENST00000348513.10:c.*19T>C	ENSP00000323967.6:n.*19T>C
ENST00000431889.6:c.*19T>C	ENSP00000445370.1:n.*19T>C
ENST00000469334.5:n.1842T>C
ENST00000578112.5:c.*1052T>C	ENSP00000464501.1:n.*1052T>C
NM_003079.4:c.*19T>C	NP_003070.3:n.*19T>C
NM_003079.5:c.*19T>C MANE Select	NP_003070.3:n.*19T>C