Canonical Allele Identifier: CA399361496

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1555605096
• MyVariant Identifiers: chr17:g.38785186T>A (hg19) ; chr17:g.40628934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628934T>A , CM000679.2:g.40628934T>A	GRCh38
NC_000017.10:g.38785186T>A , CM000679.1:g.38785186T>A	GRCh37
NC_000017.9:g.36038712T>A	NCBI36
NG_032163.1:g.23918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*649A>T	ENSP00000466608.2:n.*649A>T
ENST00000348513.12:c.1087A>T MANE Select	ENSP00000323967.6:p.Thr363Ser
ENST00000377808.9:c.*74A>T	ENSP00000367039.4:n.*74A>T
ENST00000400122.8:c.*74A>T	ENSP00000411607.2:n.*74A>T
ENST00000469334.6:n.1685A>T
ENST00000578044.6:c.877A>T	ENSP00000464511.1:p.Thr293Ser
ENST00000578112.6:c.*884A>T	ENSP00000464501.1:n.*884A>T
ENST00000580419.6:c.*66A>T	ENSP00000462475.2:n.*66A>T
ENST00000642576.1:n.2230A>T
ENST00000643030.1:n.1710A>T
ENST00000643255.1:c.*3151A>T	ENSP00000493957.1:n.*3151A>T
ENST00000643318.1:c.877A>T	ENSP00000494771.1:p.Thr293Ser
ENST00000643378.1:n.1642A>T
ENST00000643683.1:c.1087A>T	ENSP00000496094.1:p.Thr363Ser
ENST00000643893.1:n.1380A>T
ENST00000644443.1:n.2975A>T
ENST00000644523.1:n.1133A>T
ENST00000644527.1:c.859A>T	ENSP00000493974.1:p.Thr287Ser
ENST00000644701.1:c.*74A>T	ENSP00000496097.1:n.*74A>T
ENST00000644909.1:c.*356A>T	ENSP00000493649.1:n.*356A>T
ENST00000645152.1:n.1750A>T
ENST00000645227.1:c.*775A>T	ENSP00000495021.1:n.*775A>T
ENST00000646242.1:n.6999A>T
ENST00000646283.1:c.895A>T	ENSP00000494537.1:p.Thr299Ser
ENST00000646401.1:n.2453A>T
ENST00000646448.1:n.2361A>T
ENST00000646856.1:c.*963A>T	ENSP00000494505.1:n.*963A>T
ENST00000647294.1:c.*1017A>T	ENSP00000494815.1:n.*1017A>T
ENST00000647508.1:c.982A>T	ENSP00000496445.1:p.Thr328Ser
ENST00000647515.1:c.*618A>T	ENSP00000495857.1:n.*618A>T
ENST00000348513.10:c.1087A>T	ENSP00000323967.6:p.Thr363Ser
ENST00000377808.8:c.*74A>T	ENSP00000367039.4:n.*74A>T
ENST00000400122.7:c.*74A>T	ENSP00000411607.2:n.*74A>T
ENST00000431889.6:c.1033A>T	ENSP00000445370.1:p.Thr345Ser
ENST00000469334.5:n.1674A>T
ENST00000476049.1:c.*1435A>T	ENSP00000463483.1:n.*1435A>T
ENST00000578044.5:c.877A>T	ENSP00000464511.1:p.Thr293Ser
ENST00000578112.5:c.*884A>T	ENSP00000464501.1:n.*884A>T
ENST00000580419.5:c.982A>T	ENSP00000462475.1:p.Thr328Ser
NM_003079.4:c.1087A>T	NP_003070.3:p.Thr363Ser
NM_003079.5:c.1087A>T MANE Select	NP_003070.3:p.Thr363Ser