Canonical Allele Identifier: CA8545062

Gene: SMARCE1

Linked Data

• dbSNP Id: rs768116351
• ExAC: 17:38785174 T / G
• gnomAD v2: 17-38785174-T-G
• gnomAD v4: 17-40628922-T-G
• MyVariant Identifiers: chr17:g.38785174T>G (hg19) ; chr17:g.40628922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628922T>G , CM000679.2:g.40628922T>G	GRCh38
NC_000017.10:g.38785174T>G , CM000679.1:g.38785174T>G	GRCh37
NC_000017.9:g.36038700T>G	NCBI36
NG_032163.1:g.23930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*661A>C	ENSP00000466608.2:n.*661A>C
ENST00000348513.12:c.1099A>C MANE Select	ENSP00000323967.6:p.Lys367Gln
ENST00000377808.9:c.*86A>C	ENSP00000367039.4:n.*86A>C
ENST00000400122.8:c.*86A>C	ENSP00000411607.2:n.*86A>C
ENST00000469334.6:n.1697A>C
ENST00000578044.6:c.889A>C	ENSP00000464511.1:p.Lys297Gln
ENST00000578112.6:c.*896A>C	ENSP00000464501.1:n.*896A>C
ENST00000580419.6:c.*78A>C	ENSP00000462475.2:n.*78A>C
ENST00000642576.1:n.2242A>C
ENST00000643030.1:n.1722A>C
ENST00000643255.1:c.*3163A>C	ENSP00000493957.1:n.*3163A>C
ENST00000643318.1:c.889A>C	ENSP00000494771.1:p.Lys297Gln
ENST00000643378.1:n.1654A>C
ENST00000643683.1:c.1099A>C	ENSP00000496094.1:p.Lys367Gln
ENST00000643893.1:n.1392A>C
ENST00000644443.1:n.2987A>C
ENST00000644523.1:n.1145A>C
ENST00000644527.1:c.871A>C	ENSP00000493974.1:p.Lys291Gln
ENST00000644701.1:c.*86A>C	ENSP00000496097.1:n.*86A>C
ENST00000644909.1:c.*368A>C	ENSP00000493649.1:n.*368A>C
ENST00000645152.1:n.1762A>C
ENST00000645227.1:c.*787A>C	ENSP00000495021.1:n.*787A>C
ENST00000646242.1:n.7011A>C
ENST00000646283.1:c.907A>C	ENSP00000494537.1:p.Lys303Gln
ENST00000646401.1:n.2465A>C
ENST00000646448.1:n.2373A>C
ENST00000646856.1:c.*975A>C	ENSP00000494505.1:n.*975A>C
ENST00000647294.1:c.*1029A>C	ENSP00000494815.1:n.*1029A>C
ENST00000647508.1:c.994A>C	ENSP00000496445.1:p.Lys332Gln
ENST00000647515.1:c.*630A>C	ENSP00000495857.1:n.*630A>C
ENST00000348513.10:c.1099A>C	ENSP00000323967.6:p.Lys367Gln
ENST00000377808.8:c.*86A>C	ENSP00000367039.4:n.*86A>C
ENST00000400122.7:c.*86A>C	ENSP00000411607.2:n.*86A>C
ENST00000431889.6:c.1045A>C	ENSP00000445370.1:p.Lys349Gln
ENST00000469334.5:n.1686A>C
ENST00000476049.1:c.*1447A>C	ENSP00000463483.1:n.*1447A>C
ENST00000578044.5:c.889A>C	ENSP00000464511.1:p.Lys297Gln
ENST00000578112.5:c.*896A>C	ENSP00000464501.1:n.*896A>C
ENST00000580419.5:c.994A>C	ENSP00000462475.1:p.Lys332Gln
NM_003079.4:c.1099A>C	NP_003070.3:p.Lys367Gln
NM_003079.5:c.1099A>C MANE Select	NP_003070.3:p.Lys367Gln