Canonical Allele Identifier: CA2559841341

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628442A>G , CM000679.2:g.40628442A>G	GRCh38
NC_000017.10:g.38784694A>G , CM000679.1:g.38784694A>G	GRCh37
NC_000017.9:g.36038220A>G	NCBI36
NG_032163.1:g.24410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1141T>C	ENSP00000466608.2:n.*1141T>C
ENST00000348513.12:c.*343T>C MANE Select	ENSP00000323967.6:n.*343T>C
ENST00000377808.9:c.*566T>C	ENSP00000367039.4:n.*566T>C
ENST00000400122.8:c.*566T>C	ENSP00000411607.2:n.*566T>C
ENST00000469334.6:n.2177T>C
ENST00000578112.6:c.*1376T>C	ENSP00000464501.1:n.*1376T>C
ENST00000580419.6:c.*558T>C	ENSP00000462475.2:n.*558T>C
ENST00000642576.1:n.2722T>C
ENST00000643030.1:n.2202T>C
ENST00000643255.1:c.*3643T>C	ENSP00000493957.1:n.*3643T>C
ENST00000643318.1:c.*343T>C	ENSP00000494771.1:n.*343T>C
ENST00000643378.1:n.2134T>C
ENST00000643683.1:c.*343T>C	ENSP00000496094.1:n.*343T>C
ENST00000643893.1:n.1872T>C
ENST00000644443.1:n.3467T>C
ENST00000644523.1:n.1625T>C
ENST00000644527.1:c.*343T>C	ENSP00000493974.1:n.*343T>C
ENST00000644701.1:c.*566T>C	ENSP00000496097.1:n.*566T>C
ENST00000644909.1:c.*848T>C	ENSP00000493649.1:n.*848T>C
ENST00000645152.1:n.2242T>C
ENST00000645227.1:c.*1267T>C	ENSP00000495021.1:n.*1267T>C
ENST00000646242.1:n.7491T>C
ENST00000646283.1:c.*343T>C	ENSP00000494537.1:n.*343T>C
ENST00000646401.1:n.2945T>C
ENST00000646856.1:c.*1455T>C	ENSP00000494505.1:n.*1455T>C
ENST00000647294.1:c.*1509T>C	ENSP00000494815.1:n.*1509T>C
ENST00000647508.1:c.*343T>C	ENSP00000496445.1:n.*343T>C
ENST00000647515.1:c.*1110T>C	ENSP00000495857.1:n.*1110T>C
ENST00000348513.10:c.*343T>C	ENSP00000323967.6:n.*343T>C
ENST00000578112.5:c.*1376T>C	ENSP00000464501.1:n.*1376T>C
NM_003079.4:c.*343T>C	NP_003070.3:n.*343T>C
NM_003079.5:c.*343T>C MANE Select	NP_003070.3:n.*343T>C