Canonical Allele Identifier: CA399360695

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785043T>G (hg19) ; chr17:g.40628791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628791T>G , CM000679.2:g.40628791T>G	GRCh38
NC_000017.10:g.38785043T>G , CM000679.1:g.38785043T>G	GRCh37
NC_000017.9:g.36038569T>G	NCBI36
NG_032163.1:g.24061A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*792A>C	ENSP00000466608.2:n.*792A>C
ENST00000348513.12:c.1230A>C MANE Select	ENSP00000323967.6:p.Lys410Asn
ENST00000377808.9:c.*217A>C	ENSP00000367039.4:n.*217A>C
ENST00000400122.8:c.*217A>C	ENSP00000411607.2:n.*217A>C
ENST00000469334.6:n.1828A>C
ENST00000578044.6:c.1020A>C	ENSP00000464511.1:p.Lys340Asn
ENST00000578112.6:c.*1027A>C	ENSP00000464501.1:n.*1027A>C
ENST00000580419.6:c.*209A>C	ENSP00000462475.2:n.*209A>C
ENST00000642576.1:n.2373A>C
ENST00000643030.1:n.1853A>C
ENST00000643255.1:c.*3294A>C	ENSP00000493957.1:n.*3294A>C
ENST00000643318.1:c.1020A>C	ENSP00000494771.1:p.Lys340Asn
ENST00000643378.1:n.1785A>C
ENST00000643683.1:c.1230A>C	ENSP00000496094.1:p.Lys410Asn
ENST00000643893.1:n.1523A>C
ENST00000644443.1:n.3118A>C
ENST00000644523.1:n.1276A>C
ENST00000644527.1:c.1002A>C	ENSP00000493974.1:p.Lys334Asn
ENST00000644701.1:c.*217A>C	ENSP00000496097.1:n.*217A>C
ENST00000644909.1:c.*499A>C	ENSP00000493649.1:n.*499A>C
ENST00000645152.1:n.1893A>C
ENST00000645227.1:c.*918A>C	ENSP00000495021.1:n.*918A>C
ENST00000646242.1:n.7142A>C
ENST00000646283.1:c.1038A>C	ENSP00000494537.1:p.Lys346Asn
ENST00000646401.1:n.2596A>C
ENST00000646448.1:n.2504A>C
ENST00000646856.1:c.*1106A>C	ENSP00000494505.1:n.*1106A>C
ENST00000647294.1:c.*1160A>C	ENSP00000494815.1:n.*1160A>C
ENST00000647508.1:c.1125A>C	ENSP00000496445.1:p.Lys375Asn
ENST00000647515.1:c.*761A>C	ENSP00000495857.1:n.*761A>C
ENST00000348513.10:c.1230A>C	ENSP00000323967.6:p.Lys410Asn
ENST00000377808.8:c.*217A>C	ENSP00000367039.4:n.*217A>C
ENST00000400122.7:c.*217A>C	ENSP00000411607.2:n.*217A>C
ENST00000431889.6:c.1176A>C	ENSP00000445370.1:p.Lys392Asn
ENST00000469334.5:n.1817A>C
ENST00000578044.5:c.1020A>C	ENSP00000464511.1:p.Lys340Asn
ENST00000578112.5:c.*1027A>C	ENSP00000464501.1:n.*1027A>C
ENST00000580419.5:c.1125A>C	ENSP00000462475.1:p.Lys375Asn
NM_003079.4:c.1230A>C	NP_003070.3:p.Lys410Asn
NM_003079.5:c.1230A>C MANE Select	NP_003070.3:p.Lys410Asn