Canonical Allele Identifier: CA499962671

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785064G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628812G>C , CM000679.2:g.40628812G>C	GRCh38
NC_000017.10:g.38785064G>C , CM000679.1:g.38785064G>C	GRCh37
NC_000017.9:g.36038590G>C	NCBI36
NG_032163.1:g.24040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*771C>G	ENSP00000466608.2:n.*771C>G
ENST00000348513.12:c.1209C>G MANE Select	ENSP00000323967.6:p.Pro403=
ENST00000377808.9:c.*196C>G	ENSP00000367039.4:n.*196C>G
ENST00000400122.8:c.*196C>G	ENSP00000411607.2:n.*196C>G
ENST00000469334.6:n.1807C>G
ENST00000578044.6:c.999C>G	ENSP00000464511.1:p.Pro333=
ENST00000578112.6:c.*1006C>G	ENSP00000464501.1:n.*1006C>G
ENST00000580419.6:c.*188C>G	ENSP00000462475.2:n.*188C>G
ENST00000642576.1:n.2352C>G
ENST00000643030.1:n.1832C>G
ENST00000643255.1:c.*3273C>G	ENSP00000493957.1:n.*3273C>G
ENST00000643318.1:c.999C>G	ENSP00000494771.1:p.Pro333=
ENST00000643378.1:n.1764C>G
ENST00000643683.1:c.1209C>G	ENSP00000496094.1:p.Pro403=
ENST00000643893.1:n.1502C>G
ENST00000644443.1:n.3097C>G
ENST00000644523.1:n.1255C>G
ENST00000644527.1:c.981C>G	ENSP00000493974.1:p.Pro327=
ENST00000644701.1:c.*196C>G	ENSP00000496097.1:n.*196C>G
ENST00000644909.1:c.*478C>G	ENSP00000493649.1:n.*478C>G
ENST00000645152.1:n.1872C>G
ENST00000645227.1:c.*897C>G	ENSP00000495021.1:n.*897C>G
ENST00000646242.1:n.7121C>G
ENST00000646283.1:c.1017C>G	ENSP00000494537.1:p.Pro339=
ENST00000646401.1:n.2575C>G
ENST00000646448.1:n.2483C>G
ENST00000646856.1:c.*1085C>G	ENSP00000494505.1:n.*1085C>G
ENST00000647294.1:c.*1139C>G	ENSP00000494815.1:n.*1139C>G
ENST00000647508.1:c.1104C>G	ENSP00000496445.1:p.Pro368=
ENST00000647515.1:c.*740C>G	ENSP00000495857.1:n.*740C>G
ENST00000348513.10:c.1209C>G	ENSP00000323967.6:p.Pro403=
ENST00000377808.8:c.*196C>G	ENSP00000367039.4:n.*196C>G
ENST00000400122.7:c.*196C>G	ENSP00000411607.2:n.*196C>G
ENST00000431889.6:c.1155C>G	ENSP00000445370.1:p.Pro385=
ENST00000469334.5:n.1796C>G
ENST00000476049.1:c.*1557C>G	ENSP00000463483.1:n.*1557C>G
ENST00000578044.5:c.999C>G	ENSP00000464511.1:p.Pro333=
ENST00000578112.5:c.*1006C>G	ENSP00000464501.1:n.*1006C>G
ENST00000580419.5:c.1104C>G	ENSP00000462475.1:p.Pro368=
NM_003079.4:c.1209C>G	NP_003070.3:p.Pro403=
NM_003079.5:c.1209C>G MANE Select	NP_003070.3:p.Pro403=