Canonical Allele Identifier: CA499962691

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785070T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628818T>A , CM000679.2:g.40628818T>A	GRCh38
NC_000017.10:g.38785070T>A , CM000679.1:g.38785070T>A	GRCh37
NC_000017.9:g.36038596T>A	NCBI36
NG_032163.1:g.24034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*765A>T	ENSP00000466608.2:n.*765A>T
ENST00000348513.12:c.1203A>T MANE Select	ENSP00000323967.6:p.Thr401=
ENST00000377808.9:c.*190A>T	ENSP00000367039.4:n.*190A>T
ENST00000400122.8:c.*190A>T	ENSP00000411607.2:n.*190A>T
ENST00000469334.6:n.1801A>T
ENST00000578044.6:c.993A>T	ENSP00000464511.1:p.Thr331=
ENST00000578112.6:c.*1000A>T	ENSP00000464501.1:n.*1000A>T
ENST00000580419.6:c.*182A>T	ENSP00000462475.2:n.*182A>T
ENST00000642576.1:n.2346A>T
ENST00000643030.1:n.1826A>T
ENST00000643255.1:c.*3267A>T	ENSP00000493957.1:n.*3267A>T
ENST00000643318.1:c.993A>T	ENSP00000494771.1:p.Thr331=
ENST00000643378.1:n.1758A>T
ENST00000643683.1:c.1203A>T	ENSP00000496094.1:p.Thr401=
ENST00000643893.1:n.1496A>T
ENST00000644443.1:n.3091A>T
ENST00000644523.1:n.1249A>T
ENST00000644527.1:c.975A>T	ENSP00000493974.1:p.Thr325=
ENST00000644701.1:c.*190A>T	ENSP00000496097.1:n.*190A>T
ENST00000644909.1:c.*472A>T	ENSP00000493649.1:n.*472A>T
ENST00000645152.1:n.1866A>T
ENST00000645227.1:c.*891A>T	ENSP00000495021.1:n.*891A>T
ENST00000646242.1:n.7115A>T
ENST00000646283.1:c.1011A>T	ENSP00000494537.1:p.Thr337=
ENST00000646401.1:n.2569A>T
ENST00000646448.1:n.2477A>T
ENST00000646856.1:c.*1079A>T	ENSP00000494505.1:n.*1079A>T
ENST00000647294.1:c.*1133A>T	ENSP00000494815.1:n.*1133A>T
ENST00000647508.1:c.1098A>T	ENSP00000496445.1:p.Thr366=
ENST00000647515.1:c.*734A>T	ENSP00000495857.1:n.*734A>T
ENST00000348513.10:c.1203A>T	ENSP00000323967.6:p.Thr401=
ENST00000377808.8:c.*190A>T	ENSP00000367039.4:n.*190A>T
ENST00000400122.7:c.*190A>T	ENSP00000411607.2:n.*190A>T
ENST00000431889.6:c.1149A>T	ENSP00000445370.1:p.Thr383=
ENST00000469334.5:n.1790A>T
ENST00000476049.1:c.*1551A>T	ENSP00000463483.1:n.*1551A>T
ENST00000578044.5:c.993A>T	ENSP00000464511.1:p.Thr331=
ENST00000578112.5:c.*1000A>T	ENSP00000464501.1:n.*1000A>T
ENST00000580419.5:c.1098A>T	ENSP00000462475.1:p.Thr366=
NM_003079.4:c.1203A>T	NP_003070.3:p.Thr401=
NM_003079.5:c.1203A>T MANE Select	NP_003070.3:p.Thr401=