Canonical Allele Identifier: CA290547163

Gene: SMARCE1

Linked Data

• dbSNP Id: rs921125992
• gnomAD v3: 17-40628420-G-A
• gnomAD v4: 17-40628420-G-A
• MyVariant Identifiers: chr17:g.38784672G>A (hg19) ; chr17:g.40628420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628420G>A , CM000679.2:g.40628420G>A	GRCh38
NC_000017.10:g.38784672G>A , CM000679.1:g.38784672G>A	GRCh37
NC_000017.9:g.36038198G>A	NCBI36
NG_032163.1:g.24432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1163C>T	ENSP00000466608.2:n.*1163C>T
ENST00000348513.12:c.*365C>T MANE Select	ENSP00000323967.6:n.*365C>T
ENST00000377808.9:c.*588C>T	ENSP00000367039.4:n.*588C>T
ENST00000400122.8:c.*588C>T	ENSP00000411607.2:n.*588C>T
ENST00000469334.6:n.2199C>T
ENST00000578112.6:c.*1398C>T	ENSP00000464501.1:n.*1398C>T
ENST00000580419.6:c.*580C>T	ENSP00000462475.2:n.*580C>T
ENST00000642576.1:n.2744C>T
ENST00000643030.1:n.2224C>T
ENST00000643255.1:c.*3665C>T	ENSP00000493957.1:n.*3665C>T
ENST00000643318.1:c.*365C>T	ENSP00000494771.1:n.*365C>T
ENST00000643378.1:n.2156C>T
ENST00000643683.1:c.*365C>T	ENSP00000496094.1:n.*365C>T
ENST00000643893.1:n.1894C>T
ENST00000644443.1:n.3489C>T
ENST00000644523.1:n.1647C>T
ENST00000644527.1:c.*365C>T	ENSP00000493974.1:n.*365C>T
ENST00000644701.1:c.*588C>T	ENSP00000496097.1:n.*588C>T
ENST00000644909.1:c.*870C>T	ENSP00000493649.1:n.*870C>T
ENST00000645152.1:n.2264C>T
ENST00000645227.1:c.*1289C>T	ENSP00000495021.1:n.*1289C>T
ENST00000646242.1:n.7513C>T
ENST00000646283.1:c.*365C>T	ENSP00000494537.1:n.*365C>T
ENST00000646401.1:n.2967C>T
ENST00000646856.1:c.*1477C>T	ENSP00000494505.1:n.*1477C>T
ENST00000647294.1:c.*1531C>T	ENSP00000494815.1:n.*1531C>T
ENST00000647508.1:c.*365C>T	ENSP00000496445.1:n.*365C>T
ENST00000647515.1:c.*1132C>T	ENSP00000495857.1:n.*1132C>T
ENST00000348513.10:c.*365C>T	ENSP00000323967.6:n.*365C>T
ENST00000578112.5:c.*1398C>T	ENSP00000464501.1:n.*1398C>T
NM_003079.4:c.*365C>T	NP_003070.3:n.*365C>T
NM_003079.5:c.*365C>T MANE Select	NP_003070.3:n.*365C>T