Canonical Allele Identifier: CA399360812

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2143980258
• MyVariant Identifiers: chr17:g.38785065G>A (hg19) ; chr17:g.40628813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628813G>A , CM000679.2:g.40628813G>A	GRCh38
NC_000017.10:g.38785065G>A , CM000679.1:g.38785065G>A	GRCh37
NC_000017.9:g.36038591G>A	NCBI36
NG_032163.1:g.24039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*770C>T	ENSP00000466608.2:n.*770C>T
ENST00000348513.12:c.1208C>T MANE Select	ENSP00000323967.6:p.Pro403Leu
ENST00000377808.9:c.*195C>T	ENSP00000367039.4:n.*195C>T
ENST00000400122.8:c.*195C>T	ENSP00000411607.2:n.*195C>T
ENST00000469334.6:n.1806C>T
ENST00000578044.6:c.998C>T	ENSP00000464511.1:p.Pro333Leu
ENST00000578112.6:c.*1005C>T	ENSP00000464501.1:n.*1005C>T
ENST00000580419.6:c.*187C>T	ENSP00000462475.2:n.*187C>T
ENST00000642576.1:n.2351C>T
ENST00000643030.1:n.1831C>T
ENST00000643255.1:c.*3272C>T	ENSP00000493957.1:n.*3272C>T
ENST00000643318.1:c.998C>T	ENSP00000494771.1:p.Pro333Leu
ENST00000643378.1:n.1763C>T
ENST00000643683.1:c.1208C>T	ENSP00000496094.1:p.Pro403Leu
ENST00000643893.1:n.1501C>T
ENST00000644443.1:n.3096C>T
ENST00000644523.1:n.1254C>T
ENST00000644527.1:c.980C>T	ENSP00000493974.1:p.Pro327Leu
ENST00000644701.1:c.*195C>T	ENSP00000496097.1:n.*195C>T
ENST00000644909.1:c.*477C>T	ENSP00000493649.1:n.*477C>T
ENST00000645152.1:n.1871C>T
ENST00000645227.1:c.*896C>T	ENSP00000495021.1:n.*896C>T
ENST00000646242.1:n.7120C>T
ENST00000646283.1:c.1016C>T	ENSP00000494537.1:p.Pro339Leu
ENST00000646401.1:n.2574C>T
ENST00000646448.1:n.2482C>T
ENST00000646856.1:c.*1084C>T	ENSP00000494505.1:n.*1084C>T
ENST00000647294.1:c.*1138C>T	ENSP00000494815.1:n.*1138C>T
ENST00000647508.1:c.1103C>T	ENSP00000496445.1:p.Pro368Leu
ENST00000647515.1:c.*739C>T	ENSP00000495857.1:n.*739C>T
ENST00000348513.10:c.1208C>T	ENSP00000323967.6:p.Pro403Leu
ENST00000377808.8:c.*195C>T	ENSP00000367039.4:n.*195C>T
ENST00000400122.7:c.*195C>T	ENSP00000411607.2:n.*195C>T
ENST00000431889.6:c.1154C>T	ENSP00000445370.1:p.Pro385Leu
ENST00000469334.5:n.1795C>T
ENST00000476049.1:c.*1556C>T	ENSP00000463483.1:n.*1556C>T
ENST00000578044.5:c.998C>T	ENSP00000464511.1:p.Pro333Leu
ENST00000578112.5:c.*1005C>T	ENSP00000464501.1:n.*1005C>T
ENST00000580419.5:c.1103C>T	ENSP00000462475.1:p.Pro368Leu
NM_003079.4:c.1208C>T	NP_003070.3:p.Pro403Leu
NM_003079.5:c.1208C>T MANE Select	NP_003070.3:p.Pro403Leu