Canonical Allele Identifier: CA499962836

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785112A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628860A>G , CM000679.2:g.40628860A>G	GRCh38
NC_000017.10:g.38785112A>G , CM000679.1:g.38785112A>G	GRCh37
NC_000017.9:g.36038638A>G	NCBI36
NG_032163.1:g.23992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*723T>C	ENSP00000466608.2:n.*723T>C
ENST00000348513.12:c.1161T>C MANE Select	ENSP00000323967.6:p.Thr387=
ENST00000377808.9:c.*148T>C	ENSP00000367039.4:n.*148T>C
ENST00000400122.8:c.*148T>C	ENSP00000411607.2:n.*148T>C
ENST00000469334.6:n.1759T>C
ENST00000578044.6:c.951T>C	ENSP00000464511.1:p.Thr317=
ENST00000578112.6:c.*958T>C	ENSP00000464501.1:n.*958T>C
ENST00000580419.6:c.*140T>C	ENSP00000462475.2:n.*140T>C
ENST00000642576.1:n.2304T>C
ENST00000643030.1:n.1784T>C
ENST00000643255.1:c.*3225T>C	ENSP00000493957.1:n.*3225T>C
ENST00000643318.1:c.951T>C	ENSP00000494771.1:p.Thr317=
ENST00000643378.1:n.1716T>C
ENST00000643683.1:c.1161T>C	ENSP00000496094.1:p.Thr387=
ENST00000643893.1:n.1454T>C
ENST00000644443.1:n.3049T>C
ENST00000644523.1:n.1207T>C
ENST00000644527.1:c.933T>C	ENSP00000493974.1:p.Thr311=
ENST00000644701.1:c.*148T>C	ENSP00000496097.1:n.*148T>C
ENST00000644909.1:c.*430T>C	ENSP00000493649.1:n.*430T>C
ENST00000645152.1:n.1824T>C
ENST00000645227.1:c.*849T>C	ENSP00000495021.1:n.*849T>C
ENST00000646242.1:n.7073T>C
ENST00000646283.1:c.969T>C	ENSP00000494537.1:p.Thr323=
ENST00000646401.1:n.2527T>C
ENST00000646448.1:n.2435T>C
ENST00000646856.1:c.*1037T>C	ENSP00000494505.1:n.*1037T>C
ENST00000647294.1:c.*1091T>C	ENSP00000494815.1:n.*1091T>C
ENST00000647508.1:c.1056T>C	ENSP00000496445.1:p.Thr352=
ENST00000647515.1:c.*692T>C	ENSP00000495857.1:n.*692T>C
ENST00000348513.10:c.1161T>C	ENSP00000323967.6:p.Thr387=
ENST00000377808.8:c.*148T>C	ENSP00000367039.4:n.*148T>C
ENST00000400122.7:c.*148T>C	ENSP00000411607.2:n.*148T>C
ENST00000431889.6:c.1107T>C	ENSP00000445370.1:p.Thr369=
ENST00000469334.5:n.1748T>C
ENST00000476049.1:c.*1509T>C	ENSP00000463483.1:n.*1509T>C
ENST00000578044.5:c.951T>C	ENSP00000464511.1:p.Thr317=
ENST00000578112.5:c.*958T>C	ENSP00000464501.1:n.*958T>C
ENST00000580419.5:c.1056T>C	ENSP00000462475.1:p.Thr352=
NM_003079.4:c.1161T>C	NP_003070.3:p.Thr387=
NM_003079.5:c.1161T>C MANE Select	NP_003070.3:p.Thr387=