Canonical Allele Identifier: CA2637750054

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628538-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628538C>G , CM000679.2:g.40628538C>G	GRCh38
NC_000017.10:g.38784790C>G , CM000679.1:g.38784790C>G	GRCh37
NC_000017.9:g.36038316C>G	NCBI36
NG_032163.1:g.24314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1045G>C	ENSP00000466608.2:n.*1045G>C
ENST00000348513.12:c.*247G>C MANE Select	ENSP00000323967.6:n.*247G>C
ENST00000377808.9:c.*470G>C	ENSP00000367039.4:n.*470G>C
ENST00000400122.8:c.*470G>C	ENSP00000411607.2:n.*470G>C
ENST00000469334.6:n.2081G>C
ENST00000578112.6:c.*1280G>C	ENSP00000464501.1:n.*1280G>C
ENST00000580419.6:c.*462G>C	ENSP00000462475.2:n.*462G>C
ENST00000642576.1:n.2626G>C
ENST00000643030.1:n.2106G>C
ENST00000643255.1:c.*3547G>C	ENSP00000493957.1:n.*3547G>C
ENST00000643318.1:c.*247G>C	ENSP00000494771.1:n.*247G>C
ENST00000643378.1:n.2038G>C
ENST00000643683.1:c.*247G>C	ENSP00000496094.1:n.*247G>C
ENST00000643893.1:n.1776G>C
ENST00000644443.1:n.3371G>C
ENST00000644523.1:n.1529G>C
ENST00000644527.1:c.*247G>C	ENSP00000493974.1:n.*247G>C
ENST00000644701.1:c.*470G>C	ENSP00000496097.1:n.*470G>C
ENST00000644909.1:c.*752G>C	ENSP00000493649.1:n.*752G>C
ENST00000645152.1:n.2146G>C
ENST00000645227.1:c.*1171G>C	ENSP00000495021.1:n.*1171G>C
ENST00000646242.1:n.7395G>C
ENST00000646283.1:c.*247G>C	ENSP00000494537.1:n.*247G>C
ENST00000646401.1:n.2849G>C
ENST00000646856.1:c.*1359G>C	ENSP00000494505.1:n.*1359G>C
ENST00000647294.1:c.*1413G>C	ENSP00000494815.1:n.*1413G>C
ENST00000647508.1:c.*247G>C	ENSP00000496445.1:n.*247G>C
ENST00000647515.1:c.*1014G>C	ENSP00000495857.1:n.*1014G>C
ENST00000348513.10:c.*247G>C	ENSP00000323967.6:n.*247G>C
ENST00000431889.6:c.*247G>C	ENSP00000445370.1:n.*247G>C
ENST00000469334.5:n.2070G>C
ENST00000578112.5:c.*1280G>C	ENSP00000464501.1:n.*1280G>C
NM_003079.4:c.*247G>C	NP_003070.3:n.*247G>C
NM_003079.5:c.*247G>C MANE Select	NP_003070.3:n.*247G>C