Canonical Allele Identifier: CA499962743

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785085C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628833C>G , CM000679.2:g.40628833C>G	GRCh38
NC_000017.10:g.38785085C>G , CM000679.1:g.38785085C>G	GRCh37
NC_000017.9:g.36038611C>G	NCBI36
NG_032163.1:g.24019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*750G>C	ENSP00000466608.2:n.*750G>C
ENST00000348513.12:c.1188G>C MANE Select	ENSP00000323967.6:p.Val396=
ENST00000377808.9:c.*175G>C	ENSP00000367039.4:n.*175G>C
ENST00000400122.8:c.*175G>C	ENSP00000411607.2:n.*175G>C
ENST00000469334.6:n.1786G>C
ENST00000578044.6:c.978G>C	ENSP00000464511.1:p.Val326=
ENST00000578112.6:c.*985G>C	ENSP00000464501.1:n.*985G>C
ENST00000580419.6:c.*167G>C	ENSP00000462475.2:n.*167G>C
ENST00000642576.1:n.2331G>C
ENST00000643030.1:n.1811G>C
ENST00000643255.1:c.*3252G>C	ENSP00000493957.1:n.*3252G>C
ENST00000643318.1:c.978G>C	ENSP00000494771.1:p.Val326=
ENST00000643378.1:n.1743G>C
ENST00000643683.1:c.1188G>C	ENSP00000496094.1:p.Val396=
ENST00000643893.1:n.1481G>C
ENST00000644443.1:n.3076G>C
ENST00000644523.1:n.1234G>C
ENST00000644527.1:c.960G>C	ENSP00000493974.1:p.Val320=
ENST00000644701.1:c.*175G>C	ENSP00000496097.1:n.*175G>C
ENST00000644909.1:c.*457G>C	ENSP00000493649.1:n.*457G>C
ENST00000645152.1:n.1851G>C
ENST00000645227.1:c.*876G>C	ENSP00000495021.1:n.*876G>C
ENST00000646242.1:n.7100G>C
ENST00000646283.1:c.996G>C	ENSP00000494537.1:p.Val332=
ENST00000646401.1:n.2554G>C
ENST00000646448.1:n.2462G>C
ENST00000646856.1:c.*1064G>C	ENSP00000494505.1:n.*1064G>C
ENST00000647294.1:c.*1118G>C	ENSP00000494815.1:n.*1118G>C
ENST00000647508.1:c.1083G>C	ENSP00000496445.1:p.Val361=
ENST00000647515.1:c.*719G>C	ENSP00000495857.1:n.*719G>C
ENST00000348513.10:c.1188G>C	ENSP00000323967.6:p.Val396=
ENST00000377808.8:c.*175G>C	ENSP00000367039.4:n.*175G>C
ENST00000400122.7:c.*175G>C	ENSP00000411607.2:n.*175G>C
ENST00000431889.6:c.1134G>C	ENSP00000445370.1:p.Val378=
ENST00000469334.5:n.1775G>C
ENST00000476049.1:c.*1536G>C	ENSP00000463483.1:n.*1536G>C
ENST00000578044.5:c.978G>C	ENSP00000464511.1:p.Val326=
ENST00000578112.5:c.*985G>C	ENSP00000464501.1:n.*985G>C
ENST00000580419.5:c.1083G>C	ENSP00000462475.1:p.Val361=
NM_003079.4:c.1188G>C	NP_003070.3:p.Val396=
NM_003079.5:c.1188G>C MANE Select	NP_003070.3:p.Val396=