Canonical Allele Identifier: CA399360848

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1059115
• ClinVar RCV Id: RCV001368338 ; RCV002350706
• dbSNP Id: rs2037060386
• gnomAD v4: 17-40628819-G-A
• MyVariant Identifiers: chr17:g.38785071G>A (hg19) ; chr17:g.40628819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628819G>A , CM000679.2:g.40628819G>A	GRCh38
NC_000017.10:g.38785071G>A , CM000679.1:g.38785071G>A	GRCh37
NC_000017.9:g.36038597G>A	NCBI36
NG_032163.1:g.24033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*764C>T	ENSP00000466608.2:n.*764C>T
ENST00000348513.12:c.1202C>T MANE Select	ENSP00000323967.6:p.Thr401Ile
ENST00000377808.9:c.*189C>T	ENSP00000367039.4:n.*189C>T
ENST00000400122.8:c.*189C>T	ENSP00000411607.2:n.*189C>T
ENST00000469334.6:n.1800C>T
ENST00000578044.6:c.992C>T	ENSP00000464511.1:p.Thr331Ile
ENST00000578112.6:c.*999C>T	ENSP00000464501.1:n.*999C>T
ENST00000580419.6:c.*181C>T	ENSP00000462475.2:n.*181C>T
ENST00000642576.1:n.2345C>T
ENST00000643030.1:n.1825C>T
ENST00000643255.1:c.*3266C>T	ENSP00000493957.1:n.*3266C>T
ENST00000643318.1:c.992C>T	ENSP00000494771.1:p.Thr331Ile
ENST00000643378.1:n.1757C>T
ENST00000643683.1:c.1202C>T	ENSP00000496094.1:p.Thr401Ile
ENST00000643893.1:n.1495C>T
ENST00000644443.1:n.3090C>T
ENST00000644523.1:n.1248C>T
ENST00000644527.1:c.974C>T	ENSP00000493974.1:p.Thr325Ile
ENST00000644701.1:c.*189C>T	ENSP00000496097.1:n.*189C>T
ENST00000644909.1:c.*471C>T	ENSP00000493649.1:n.*471C>T
ENST00000645152.1:n.1865C>T
ENST00000645227.1:c.*890C>T	ENSP00000495021.1:n.*890C>T
ENST00000646242.1:n.7114C>T
ENST00000646283.1:c.1010C>T	ENSP00000494537.1:p.Thr337Ile
ENST00000646401.1:n.2568C>T
ENST00000646448.1:n.2476C>T
ENST00000646856.1:c.*1078C>T	ENSP00000494505.1:n.*1078C>T
ENST00000647294.1:c.*1132C>T	ENSP00000494815.1:n.*1132C>T
ENST00000647508.1:c.1097C>T	ENSP00000496445.1:p.Thr366Ile
ENST00000647515.1:c.*733C>T	ENSP00000495857.1:n.*733C>T
ENST00000348513.10:c.1202C>T	ENSP00000323967.6:p.Thr401Ile
ENST00000377808.8:c.*189C>T	ENSP00000367039.4:n.*189C>T
ENST00000400122.7:c.*189C>T	ENSP00000411607.2:n.*189C>T
ENST00000431889.6:c.1148C>T	ENSP00000445370.1:p.Thr383Ile
ENST00000469334.5:n.1789C>T
ENST00000476049.1:c.*1550C>T	ENSP00000463483.1:n.*1550C>T
ENST00000578044.5:c.992C>T	ENSP00000464511.1:p.Thr331Ile
ENST00000578112.5:c.*999C>T	ENSP00000464501.1:n.*999C>T
ENST00000580419.5:c.1097C>T	ENSP00000462475.1:p.Thr366Ile
NM_003079.4:c.1202C>T	NP_003070.3:p.Thr401Ile
NM_003079.5:c.1202C>T MANE Select	NP_003070.3:p.Thr401Ile