Canonical Allele Identifier: CA399360827

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785067A>T (hg19) ; chr17:g.40628815A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628815A>T , CM000679.2:g.40628815A>T	GRCh38
NC_000017.10:g.38785067A>T , CM000679.1:g.38785067A>T	GRCh37
NC_000017.9:g.36038593A>T	NCBI36
NG_032163.1:g.24037T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*768T>A	ENSP00000466608.2:n.*768T>A
ENST00000348513.12:c.1206T>A MANE Select	ENSP00000323967.6:p.Asp402Glu
ENST00000377808.9:c.*193T>A	ENSP00000367039.4:n.*193T>A
ENST00000400122.8:c.*193T>A	ENSP00000411607.2:n.*193T>A
ENST00000469334.6:n.1804T>A
ENST00000578044.6:c.996T>A	ENSP00000464511.1:p.Asp332Glu
ENST00000578112.6:c.*1003T>A	ENSP00000464501.1:n.*1003T>A
ENST00000580419.6:c.*185T>A	ENSP00000462475.2:n.*185T>A
ENST00000642576.1:n.2349T>A
ENST00000643030.1:n.1829T>A
ENST00000643255.1:c.*3270T>A	ENSP00000493957.1:n.*3270T>A
ENST00000643318.1:c.996T>A	ENSP00000494771.1:p.Asp332Glu
ENST00000643378.1:n.1761T>A
ENST00000643683.1:c.1206T>A	ENSP00000496094.1:p.Asp402Glu
ENST00000643893.1:n.1499T>A
ENST00000644443.1:n.3094T>A
ENST00000644523.1:n.1252T>A
ENST00000644527.1:c.978T>A	ENSP00000493974.1:p.Asp326Glu
ENST00000644701.1:c.*193T>A	ENSP00000496097.1:n.*193T>A
ENST00000644909.1:c.*475T>A	ENSP00000493649.1:n.*475T>A
ENST00000645152.1:n.1869T>A
ENST00000645227.1:c.*894T>A	ENSP00000495021.1:n.*894T>A
ENST00000646242.1:n.7118T>A
ENST00000646283.1:c.1014T>A	ENSP00000494537.1:p.Asp338Glu
ENST00000646401.1:n.2572T>A
ENST00000646448.1:n.2480T>A
ENST00000646856.1:c.*1082T>A	ENSP00000494505.1:n.*1082T>A
ENST00000647294.1:c.*1136T>A	ENSP00000494815.1:n.*1136T>A
ENST00000647508.1:c.1101T>A	ENSP00000496445.1:p.Asp367Glu
ENST00000647515.1:c.*737T>A	ENSP00000495857.1:n.*737T>A
ENST00000348513.10:c.1206T>A	ENSP00000323967.6:p.Asp402Glu
ENST00000377808.8:c.*193T>A	ENSP00000367039.4:n.*193T>A
ENST00000400122.7:c.*193T>A	ENSP00000411607.2:n.*193T>A
ENST00000431889.6:c.1152T>A	ENSP00000445370.1:p.Asp384Glu
ENST00000469334.5:n.1793T>A
ENST00000476049.1:c.*1554T>A	ENSP00000463483.1:n.*1554T>A
ENST00000578044.5:c.996T>A	ENSP00000464511.1:p.Asp332Glu
ENST00000578112.5:c.*1003T>A	ENSP00000464501.1:n.*1003T>A
ENST00000580419.5:c.1101T>A	ENSP00000462475.1:p.Asp367Glu
NM_003079.4:c.1206T>A	NP_003070.3:p.Asp402Glu
NM_003079.5:c.1206T>A MANE Select	NP_003070.3:p.Asp402Glu