Canonical Allele Identifier: CA290547380

Gene: SMARCE1

Linked Data

• dbSNP Id: rs774862028
• gnomAD v2: 17-38784965-G-A
• gnomAD v3: 17-40628713-G-A
• gnomAD v4: 17-40628713-G-A
• MyVariant Identifiers: chr17:g.38784965G>A (hg19) ; chr17:g.40628713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628713G>A , CM000679.2:g.40628713G>A	GRCh38
NC_000017.10:g.38784965G>A , CM000679.1:g.38784965G>A	GRCh37
NC_000017.9:g.36038491G>A	NCBI36
NG_032163.1:g.24139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*870C>T	ENSP00000466608.2:n.*870C>T
ENST00000348513.12:c.*72C>T MANE Select	ENSP00000323967.6:n.*72C>T
ENST00000377808.9:c.*295C>T	ENSP00000367039.4:n.*295C>T
ENST00000400122.8:c.*295C>T	ENSP00000411607.2:n.*295C>T
ENST00000469334.6:n.1906C>T
ENST00000578112.6:c.*1105C>T	ENSP00000464501.1:n.*1105C>T
ENST00000580419.6:c.*287C>T	ENSP00000462475.2:n.*287C>T
ENST00000642576.1:n.2451C>T
ENST00000643030.1:n.1931C>T
ENST00000643255.1:c.*3372C>T	ENSP00000493957.1:n.*3372C>T
ENST00000643318.1:c.*72C>T	ENSP00000494771.1:n.*72C>T
ENST00000643378.1:n.1863C>T
ENST00000643683.1:c.*72C>T	ENSP00000496094.1:n.*72C>T
ENST00000643893.1:n.1601C>T
ENST00000644443.1:n.3196C>T
ENST00000644523.1:n.1354C>T
ENST00000644527.1:c.*72C>T	ENSP00000493974.1:n.*72C>T
ENST00000644701.1:c.*295C>T	ENSP00000496097.1:n.*295C>T
ENST00000644909.1:c.*577C>T	ENSP00000493649.1:n.*577C>T
ENST00000645152.1:n.1971C>T
ENST00000645227.1:c.*996C>T	ENSP00000495021.1:n.*996C>T
ENST00000646242.1:n.7220C>T
ENST00000646283.1:c.*72C>T	ENSP00000494537.1:n.*72C>T
ENST00000646401.1:n.2674C>T
ENST00000646856.1:c.*1184C>T	ENSP00000494505.1:n.*1184C>T
ENST00000647294.1:c.*1238C>T	ENSP00000494815.1:n.*1238C>T
ENST00000647508.1:c.*72C>T	ENSP00000496445.1:n.*72C>T
ENST00000647515.1:c.*839C>T	ENSP00000495857.1:n.*839C>T
ENST00000348513.10:c.*72C>T	ENSP00000323967.6:n.*72C>T
ENST00000431889.6:c.*72C>T	ENSP00000445370.1:n.*72C>T
ENST00000469334.5:n.1895C>T
ENST00000578112.5:c.*1105C>T	ENSP00000464501.1:n.*1105C>T
NM_003079.4:c.*72C>T	NP_003070.3:n.*72C>T
NM_003079.5:c.*72C>T MANE Select	NP_003070.3:n.*72C>T