Canonical Allele Identifier: CA399364491

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38787933C>G (hg19) ; chr17:g.40631681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631681C>G , CM000679.2:g.40631681C>G	GRCh38
NC_000017.10:g.38787933C>G , CM000679.1:g.38787933C>G	GRCh37
NC_000017.9:g.36041459C>G	NCBI36
NG_032163.1:g.21171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.727G>C	ENSP00000466608.2:p.Ala243Pro
ENST00000348513.12:c.727G>C MANE Select	ENSP00000323967.6:p.Ala243Pro
ENST00000377808.9:c.622G>C	ENSP00000367039.4:p.Ala208Pro
ENST00000400122.8:c.517G>C	ENSP00000411607.2:p.Ala173Pro
ENST00000447024.6:c.727G>C	ENSP00000392958.2:p.Ala243Pro
ENST00000469334.6:n.1325G>C
ENST00000478349.7:c.679G>C	ENSP00000463216.2:p.Ala227Pro
ENST00000578044.6:c.517G>C	ENSP00000464511.1:p.Ala173Pro
ENST00000578112.6:c.*524G>C	ENSP00000464501.1:n.*524G>C
ENST00000580419.6:c.622G>C	ENSP00000462475.2:p.Ala208Pro
ENST00000580654.6:c.673G>C	ENSP00000464061.2:p.Ala225Pro
ENST00000642459.1:c.517G>C	ENSP00000496546.1:p.Ala173Pro
ENST00000642576.1:n.1203G>C
ENST00000643030.1:n.683G>C
ENST00000643255.1:c.*2791G>C	ENSP00000493957.1:n.*2791G>C
ENST00000643318.1:c.517G>C	ENSP00000494771.1:p.Ala173Pro
ENST00000643378.1:n.1282G>C
ENST00000643580.1:n.81G>C
ENST00000643683.1:c.727G>C	ENSP00000496094.1:p.Ala243Pro
ENST00000643893.1:n.1020G>C
ENST00000644443.1:n.1948G>C
ENST00000644523.1:n.773G>C
ENST00000644527.1:c.517G>C	ENSP00000493974.1:p.Ala173Pro
ENST00000644701.1:c.727G>C	ENSP00000496097.1:p.Ala243Pro
ENST00000644909.1:c.344G>C	ENSP00000493649.1:p.Ser115Thr
ENST00000645104.1:c.622G>C	ENSP00000496311.1:p.Ala208Pro
ENST00000645152.1:n.723G>C
ENST00000645227.1:c.*336G>C	ENSP00000495021.1:n.*336G>C
ENST00000646242.1:n.4919G>C
ENST00000646283.1:c.535G>C	ENSP00000494537.1:p.Ala179Pro
ENST00000646401.1:n.1347G>C
ENST00000646448.1:n.1334G>C
ENST00000646482.1:c.727G>C	ENSP00000496661.1:p.Ala243Pro
ENST00000646856.1:c.*524G>C	ENSP00000494505.1:n.*524G>C
ENST00000647294.1:c.*657G>C	ENSP00000494815.1:n.*657G>C
ENST00000647508.1:c.622G>C	ENSP00000496445.1:p.Ala208Pro
ENST00000647515.1:c.517G>C	ENSP00000495857.1:p.Ala173Pro
ENST00000264640.8:c.167G>C
ENST00000348513.10:c.727G>C	ENSP00000323967.6:p.Ala243Pro
ENST00000377808.8:c.622G>C	ENSP00000367039.4:p.Ala208Pro
ENST00000400122.7:c.517G>C	ENSP00000411607.2:p.Ala173Pro
ENST00000431889.6:c.673G>C	ENSP00000445370.1:p.Ala225Pro
ENST00000447024.5:c.109G>C	ENSP00000392958.1:p.Ala37Pro
ENST00000469334.5:n.1314G>C
ENST00000476049.1:c.*1075G>C	ENSP00000463483.1:n.*1075G>C
ENST00000478349.6:c.679G>C	ENSP00000463216.1:p.Ala227Pro
ENST00000578044.5:c.517G>C	ENSP00000464511.1:p.Ala173Pro
ENST00000578112.5:c.*524G>C	ENSP00000464501.1:n.*524G>C
ENST00000580419.5:c.622G>C	ENSP00000462475.1:p.Ala208Pro
NM_003079.4:c.727G>C	NP_003070.3:p.Ala243Pro
NM_003079.5:c.727G>C MANE Select	NP_003070.3:p.Ala243Pro