Canonical Allele Identifier: CA499962716

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785076T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628824T>A , CM000679.2:g.40628824T>A	GRCh38
NC_000017.10:g.38785076T>A , CM000679.1:g.38785076T>A	GRCh37
NC_000017.9:g.36038602T>A	NCBI36
NG_032163.1:g.24028A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*759A>T	ENSP00000466608.2:n.*759A>T
ENST00000348513.12:c.1197A>T MANE Select	ENSP00000323967.6:p.Pro399=
ENST00000377808.9:c.*184A>T	ENSP00000367039.4:n.*184A>T
ENST00000400122.8:c.*184A>T	ENSP00000411607.2:n.*184A>T
ENST00000469334.6:n.1795A>T
ENST00000578044.6:c.987A>T	ENSP00000464511.1:p.Pro329=
ENST00000578112.6:c.*994A>T	ENSP00000464501.1:n.*994A>T
ENST00000580419.6:c.*176A>T	ENSP00000462475.2:n.*176A>T
ENST00000642576.1:n.2340A>T
ENST00000643030.1:n.1820A>T
ENST00000643255.1:c.*3261A>T	ENSP00000493957.1:n.*3261A>T
ENST00000643318.1:c.987A>T	ENSP00000494771.1:p.Pro329=
ENST00000643378.1:n.1752A>T
ENST00000643683.1:c.1197A>T	ENSP00000496094.1:p.Pro399=
ENST00000643893.1:n.1490A>T
ENST00000644443.1:n.3085A>T
ENST00000644523.1:n.1243A>T
ENST00000644527.1:c.969A>T	ENSP00000493974.1:p.Pro323=
ENST00000644701.1:c.*184A>T	ENSP00000496097.1:n.*184A>T
ENST00000644909.1:c.*466A>T	ENSP00000493649.1:n.*466A>T
ENST00000645152.1:n.1860A>T
ENST00000645227.1:c.*885A>T	ENSP00000495021.1:n.*885A>T
ENST00000646242.1:n.7109A>T
ENST00000646283.1:c.1005A>T	ENSP00000494537.1:p.Pro335=
ENST00000646401.1:n.2563A>T
ENST00000646448.1:n.2471A>T
ENST00000646856.1:c.*1073A>T	ENSP00000494505.1:n.*1073A>T
ENST00000647294.1:c.*1127A>T	ENSP00000494815.1:n.*1127A>T
ENST00000647508.1:c.1092A>T	ENSP00000496445.1:p.Pro364=
ENST00000647515.1:c.*728A>T	ENSP00000495857.1:n.*728A>T
ENST00000348513.10:c.1197A>T	ENSP00000323967.6:p.Pro399=
ENST00000377808.8:c.*184A>T	ENSP00000367039.4:n.*184A>T
ENST00000400122.7:c.*184A>T	ENSP00000411607.2:n.*184A>T
ENST00000431889.6:c.1143A>T	ENSP00000445370.1:p.Pro381=
ENST00000469334.5:n.1784A>T
ENST00000476049.1:c.*1545A>T	ENSP00000463483.1:n.*1545A>T
ENST00000578044.5:c.987A>T	ENSP00000464511.1:p.Pro329=
ENST00000578112.5:c.*994A>T	ENSP00000464501.1:n.*994A>T
ENST00000580419.5:c.1092A>T	ENSP00000462475.1:p.Pro364=
NM_003079.4:c.1197A>T	NP_003070.3:p.Pro399=
NM_003079.5:c.1197A>T MANE Select	NP_003070.3:p.Pro399=