Canonical Allele Identifier: CA499962767

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785091T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628839T>C , CM000679.2:g.40628839T>C	GRCh38
NC_000017.10:g.38785091T>C , CM000679.1:g.38785091T>C	GRCh37
NC_000017.9:g.36038617T>C	NCBI36
NG_032163.1:g.24013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*744A>G	ENSP00000466608.2:n.*744A>G
ENST00000348513.12:c.1182A>G MANE Select	ENSP00000323967.6:p.Ala394=
ENST00000377808.9:c.*169A>G	ENSP00000367039.4:n.*169A>G
ENST00000400122.8:c.*169A>G	ENSP00000411607.2:n.*169A>G
ENST00000469334.6:n.1780A>G
ENST00000578044.6:c.972A>G	ENSP00000464511.1:p.Ala324=
ENST00000578112.6:c.*979A>G	ENSP00000464501.1:n.*979A>G
ENST00000580419.6:c.*161A>G	ENSP00000462475.2:n.*161A>G
ENST00000642576.1:n.2325A>G
ENST00000643030.1:n.1805A>G
ENST00000643255.1:c.*3246A>G	ENSP00000493957.1:n.*3246A>G
ENST00000643318.1:c.972A>G	ENSP00000494771.1:p.Ala324=
ENST00000643378.1:n.1737A>G
ENST00000643683.1:c.1182A>G	ENSP00000496094.1:p.Ala394=
ENST00000643893.1:n.1475A>G
ENST00000644443.1:n.3070A>G
ENST00000644523.1:n.1228A>G
ENST00000644527.1:c.954A>G	ENSP00000493974.1:p.Ala318=
ENST00000644701.1:c.*169A>G	ENSP00000496097.1:n.*169A>G
ENST00000644909.1:c.*451A>G	ENSP00000493649.1:n.*451A>G
ENST00000645152.1:n.1845A>G
ENST00000645227.1:c.*870A>G	ENSP00000495021.1:n.*870A>G
ENST00000646242.1:n.7094A>G
ENST00000646283.1:c.990A>G	ENSP00000494537.1:p.Ala330=
ENST00000646401.1:n.2548A>G
ENST00000646448.1:n.2456A>G
ENST00000646856.1:c.*1058A>G	ENSP00000494505.1:n.*1058A>G
ENST00000647294.1:c.*1112A>G	ENSP00000494815.1:n.*1112A>G
ENST00000647508.1:c.1077A>G	ENSP00000496445.1:p.Ala359=
ENST00000647515.1:c.*713A>G	ENSP00000495857.1:n.*713A>G
ENST00000348513.10:c.1182A>G	ENSP00000323967.6:p.Ala394=
ENST00000377808.8:c.*169A>G	ENSP00000367039.4:n.*169A>G
ENST00000400122.7:c.*169A>G	ENSP00000411607.2:n.*169A>G
ENST00000431889.6:c.1128A>G	ENSP00000445370.1:p.Ala376=
ENST00000469334.5:n.1769A>G
ENST00000476049.1:c.*1530A>G	ENSP00000463483.1:n.*1530A>G
ENST00000578044.5:c.972A>G	ENSP00000464511.1:p.Ala324=
ENST00000578112.5:c.*979A>G	ENSP00000464501.1:n.*979A>G
ENST00000580419.5:c.1077A>G	ENSP00000462475.1:p.Ala359=
NM_003079.4:c.1182A>G	NP_003070.3:p.Ala394=
NM_003079.5:c.1182A>G MANE Select	NP_003070.3:p.Ala394=