Canonical Allele Identifier: CA290547151

Gene: SMARCE1

Linked Data

• dbSNP Id: rs991464828
• gnomAD v2: 17-38784630-A-G
• gnomAD v3: 17-40628378-A-G
• gnomAD v4: 17-40628378-A-G
• MyVariant Identifiers: chr17:g.38784630A>G (hg19) ; chr17:g.38784630_38784632delinsGAG (hg19) ; chr17:g.40628378A>G (hg38) ; chr17:g.40628378_40628380delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628378A>G , CM000679.2:g.40628378A>G	GRCh38
NC_000017.10:g.38784630A>G , CM000679.1:g.38784630A>G	GRCh37
NC_000017.9:g.36038156A>G	NCBI36
NG_032163.1:g.24474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1205T>C	ENSP00000466608.2:n.*1205T>C
ENST00000348513.12:c.*407T>C MANE Select	ENSP00000323967.6:n.*407T>C
ENST00000377808.9:c.*630T>C	ENSP00000367039.4:n.*630T>C
ENST00000400122.8:c.*630T>C	ENSP00000411607.2:n.*630T>C
ENST00000469334.6:n.2241T>C
ENST00000578112.6:c.*1440T>C	ENSP00000464501.1:n.*1440T>C
ENST00000580419.6:c.*622T>C	ENSP00000462475.2:n.*622T>C
ENST00000642576.1:n.2786T>C
ENST00000643030.1:n.2266T>C
ENST00000643255.1:c.*3707T>C	ENSP00000493957.1:n.*3707T>C
ENST00000643318.1:c.*407T>C	ENSP00000494771.1:n.*407T>C
ENST00000643378.1:n.2198T>C
ENST00000643683.1:c.*407T>C	ENSP00000496094.1:n.*407T>C
ENST00000643893.1:n.1936T>C
ENST00000644443.1:n.3531T>C
ENST00000644523.1:n.1689T>C
ENST00000644527.1:c.*407T>C	ENSP00000493974.1:n.*407T>C
ENST00000644701.1:c.*630T>C	ENSP00000496097.1:n.*630T>C
ENST00000644909.1:c.*912T>C	ENSP00000493649.1:n.*912T>C
ENST00000645152.1:n.2306T>C
ENST00000645227.1:c.*1331T>C	ENSP00000495021.1:n.*1331T>C
ENST00000646242.1:n.7555T>C
ENST00000646283.1:c.*407T>C	ENSP00000494537.1:n.*407T>C
ENST00000646401.1:n.3009T>C
ENST00000646856.1:c.*1519T>C	ENSP00000494505.1:n.*1519T>C
ENST00000647294.1:c.*1573T>C	ENSP00000494815.1:n.*1573T>C
ENST00000647508.1:c.*407T>C	ENSP00000496445.1:n.*407T>C
ENST00000647515.1:c.*1174T>C	ENSP00000495857.1:n.*1174T>C
ENST00000348513.10:c.*407T>C	ENSP00000323967.6:n.*407T>C
ENST00000578112.5:c.*1440T>C	ENSP00000464501.1:n.*1440T>C
NM_003079.4:c.*407T>C	NP_003070.3:n.*407T>C
NM_003079.5:c.*407T>C MANE Select	NP_003070.3:n.*407T>C