Canonical Allele Identifier: CA399360927

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785084C>G (hg19) ; chr17:g.40628832C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628832C>G , CM000679.2:g.40628832C>G	GRCh38
NC_000017.10:g.38785084C>G , CM000679.1:g.38785084C>G	GRCh37
NC_000017.9:g.36038610C>G	NCBI36
NG_032163.1:g.24020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*751G>C	ENSP00000466608.2:n.*751G>C
ENST00000348513.12:c.1189G>C MANE Select	ENSP00000323967.6:p.Glu397Gln
ENST00000377808.9:c.*176G>C	ENSP00000367039.4:n.*176G>C
ENST00000400122.8:c.*176G>C	ENSP00000411607.2:n.*176G>C
ENST00000469334.6:n.1787G>C
ENST00000578044.6:c.979G>C	ENSP00000464511.1:p.Glu327Gln
ENST00000578112.6:c.*986G>C	ENSP00000464501.1:n.*986G>C
ENST00000580419.6:c.*168G>C	ENSP00000462475.2:n.*168G>C
ENST00000642576.1:n.2332G>C
ENST00000643030.1:n.1812G>C
ENST00000643255.1:c.*3253G>C	ENSP00000493957.1:n.*3253G>C
ENST00000643318.1:c.979G>C	ENSP00000494771.1:p.Glu327Gln
ENST00000643378.1:n.1744G>C
ENST00000643683.1:c.1189G>C	ENSP00000496094.1:p.Glu397Gln
ENST00000643893.1:n.1482G>C
ENST00000644443.1:n.3077G>C
ENST00000644523.1:n.1235G>C
ENST00000644527.1:c.961G>C	ENSP00000493974.1:p.Glu321Gln
ENST00000644701.1:c.*176G>C	ENSP00000496097.1:n.*176G>C
ENST00000644909.1:c.*458G>C	ENSP00000493649.1:n.*458G>C
ENST00000645152.1:n.1852G>C
ENST00000645227.1:c.*877G>C	ENSP00000495021.1:n.*877G>C
ENST00000646242.1:n.7101G>C
ENST00000646283.1:c.997G>C	ENSP00000494537.1:p.Glu333Gln
ENST00000646401.1:n.2555G>C
ENST00000646448.1:n.2463G>C
ENST00000646856.1:c.*1065G>C	ENSP00000494505.1:n.*1065G>C
ENST00000647294.1:c.*1119G>C	ENSP00000494815.1:n.*1119G>C
ENST00000647508.1:c.1084G>C	ENSP00000496445.1:p.Glu362Gln
ENST00000647515.1:c.*720G>C	ENSP00000495857.1:n.*720G>C
ENST00000348513.10:c.1189G>C	ENSP00000323967.6:p.Glu397Gln
ENST00000377808.8:c.*176G>C	ENSP00000367039.4:n.*176G>C
ENST00000400122.7:c.*176G>C	ENSP00000411607.2:n.*176G>C
ENST00000431889.6:c.1135G>C	ENSP00000445370.1:p.Glu379Gln
ENST00000469334.5:n.1776G>C
ENST00000476049.1:c.*1537G>C	ENSP00000463483.1:n.*1537G>C
ENST00000578044.5:c.979G>C	ENSP00000464511.1:p.Glu327Gln
ENST00000578112.5:c.*986G>C	ENSP00000464501.1:n.*986G>C
ENST00000580419.5:c.1084G>C	ENSP00000462475.1:p.Glu362Gln
NM_003079.4:c.1189G>C	NP_003070.3:p.Glu397Gln
NM_003079.5:c.1189G>C MANE Select	NP_003070.3:p.Glu397Gln