Canonical Allele Identifier: CA399360978

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785094A>C (hg19) ; chr17:g.40628842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628842A>C , CM000679.2:g.40628842A>C	GRCh38
NC_000017.10:g.38785094A>C , CM000679.1:g.38785094A>C	GRCh37
NC_000017.9:g.36038620A>C	NCBI36
NG_032163.1:g.24010T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*741T>G	ENSP00000466608.2:n.*741T>G
ENST00000348513.12:c.1179T>G MANE Select	ENSP00000323967.6:p.Ser393Arg
ENST00000377808.9:c.*166T>G	ENSP00000367039.4:n.*166T>G
ENST00000400122.8:c.*166T>G	ENSP00000411607.2:n.*166T>G
ENST00000469334.6:n.1777T>G
ENST00000578044.6:c.969T>G	ENSP00000464511.1:p.Ser323Arg
ENST00000578112.6:c.*976T>G	ENSP00000464501.1:n.*976T>G
ENST00000580419.6:c.*158T>G	ENSP00000462475.2:n.*158T>G
ENST00000642576.1:n.2322T>G
ENST00000643030.1:n.1802T>G
ENST00000643255.1:c.*3243T>G	ENSP00000493957.1:n.*3243T>G
ENST00000643318.1:c.969T>G	ENSP00000494771.1:p.Ser323Arg
ENST00000643378.1:n.1734T>G
ENST00000643683.1:c.1179T>G	ENSP00000496094.1:p.Ser393Arg
ENST00000643893.1:n.1472T>G
ENST00000644443.1:n.3067T>G
ENST00000644523.1:n.1225T>G
ENST00000644527.1:c.951T>G	ENSP00000493974.1:p.Ser317Arg
ENST00000644701.1:c.*166T>G	ENSP00000496097.1:n.*166T>G
ENST00000644909.1:c.*448T>G	ENSP00000493649.1:n.*448T>G
ENST00000645152.1:n.1842T>G
ENST00000645227.1:c.*867T>G	ENSP00000495021.1:n.*867T>G
ENST00000646242.1:n.7091T>G
ENST00000646283.1:c.987T>G	ENSP00000494537.1:p.Ser329Arg
ENST00000646401.1:n.2545T>G
ENST00000646448.1:n.2453T>G
ENST00000646856.1:c.*1055T>G	ENSP00000494505.1:n.*1055T>G
ENST00000647294.1:c.*1109T>G	ENSP00000494815.1:n.*1109T>G
ENST00000647508.1:c.1074T>G	ENSP00000496445.1:p.Ser358Arg
ENST00000647515.1:c.*710T>G	ENSP00000495857.1:n.*710T>G
ENST00000348513.10:c.1179T>G	ENSP00000323967.6:p.Ser393Arg
ENST00000377808.8:c.*166T>G	ENSP00000367039.4:n.*166T>G
ENST00000400122.7:c.*166T>G	ENSP00000411607.2:n.*166T>G
ENST00000431889.6:c.1125T>G	ENSP00000445370.1:p.Ser375Arg
ENST00000469334.5:n.1766T>G
ENST00000476049.1:c.*1527T>G	ENSP00000463483.1:n.*1527T>G
ENST00000578044.5:c.969T>G	ENSP00000464511.1:p.Ser323Arg
ENST00000578112.5:c.*976T>G	ENSP00000464501.1:n.*976T>G
ENST00000580419.5:c.1074T>G	ENSP00000462475.1:p.Ser358Arg
NM_003079.4:c.1179T>G	NP_003070.3:p.Ser393Arg
NM_003079.5:c.1179T>G MANE Select	NP_003070.3:p.Ser393Arg