Canonical Allele Identifier: CA771947564

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1328117595
• gnomAD v4: 17-40628435-C-A
• MyVariant Identifiers: chr17:g.38784687C>A (hg19) ; chr17:g.40628435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628435C>A , CM000679.2:g.40628435C>A	GRCh38
NC_000017.10:g.38784687C>A , CM000679.1:g.38784687C>A	GRCh37
NC_000017.9:g.36038213C>A	NCBI36
NG_032163.1:g.24417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1148G>T	ENSP00000466608.2:n.*1148G>T
ENST00000348513.12:c.*350G>T MANE Select	ENSP00000323967.6:n.*350G>T
ENST00000377808.9:c.*573G>T	ENSP00000367039.4:n.*573G>T
ENST00000400122.8:c.*573G>T	ENSP00000411607.2:n.*573G>T
ENST00000469334.6:n.2184G>T
ENST00000578112.6:c.*1383G>T	ENSP00000464501.1:n.*1383G>T
ENST00000580419.6:c.*565G>T	ENSP00000462475.2:n.*565G>T
ENST00000642576.1:n.2729G>T
ENST00000643030.1:n.2209G>T
ENST00000643255.1:c.*3650G>T	ENSP00000493957.1:n.*3650G>T
ENST00000643318.1:c.*350G>T	ENSP00000494771.1:n.*350G>T
ENST00000643378.1:n.2141G>T
ENST00000643683.1:c.*350G>T	ENSP00000496094.1:n.*350G>T
ENST00000643893.1:n.1879G>T
ENST00000644443.1:n.3474G>T
ENST00000644523.1:n.1632G>T
ENST00000644527.1:c.*350G>T	ENSP00000493974.1:n.*350G>T
ENST00000644701.1:c.*573G>T	ENSP00000496097.1:n.*573G>T
ENST00000644909.1:c.*855G>T	ENSP00000493649.1:n.*855G>T
ENST00000645152.1:n.2249G>T
ENST00000645227.1:c.*1274G>T	ENSP00000495021.1:n.*1274G>T
ENST00000646242.1:n.7498G>T
ENST00000646283.1:c.*350G>T	ENSP00000494537.1:n.*350G>T
ENST00000646401.1:n.2952G>T
ENST00000646856.1:c.*1462G>T	ENSP00000494505.1:n.*1462G>T
ENST00000647294.1:c.*1516G>T	ENSP00000494815.1:n.*1516G>T
ENST00000647508.1:c.*350G>T	ENSP00000496445.1:n.*350G>T
ENST00000647515.1:c.*1117G>T	ENSP00000495857.1:n.*1117G>T
ENST00000348513.10:c.*350G>T	ENSP00000323967.6:n.*350G>T
ENST00000578112.5:c.*1383G>T	ENSP00000464501.1:n.*1383G>T
NM_003079.4:c.*350G>T	NP_003070.3:n.*350G>T
NM_003079.5:c.*350G>T MANE Select	NP_003070.3:n.*350G>T