Canonical Allele Identifier: CA2637749983

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628412-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628412A>G , CM000679.2:g.40628412A>G	GRCh38
NC_000017.10:g.38784664A>G , CM000679.1:g.38784664A>G	GRCh37
NC_000017.9:g.36038190A>G	NCBI36
NG_032163.1:g.24440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1171T>C	ENSP00000466608.2:n.*1171T>C
ENST00000348513.12:c.*373T>C MANE Select	ENSP00000323967.6:n.*373T>C
ENST00000377808.9:c.*596T>C	ENSP00000367039.4:n.*596T>C
ENST00000400122.8:c.*596T>C	ENSP00000411607.2:n.*596T>C
ENST00000469334.6:n.2207T>C
ENST00000578112.6:c.*1406T>C	ENSP00000464501.1:n.*1406T>C
ENST00000580419.6:c.*588T>C	ENSP00000462475.2:n.*588T>C
ENST00000642576.1:n.2752T>C
ENST00000643030.1:n.2232T>C
ENST00000643255.1:c.*3673T>C	ENSP00000493957.1:n.*3673T>C
ENST00000643318.1:c.*373T>C	ENSP00000494771.1:n.*373T>C
ENST00000643378.1:n.2164T>C
ENST00000643683.1:c.*373T>C	ENSP00000496094.1:n.*373T>C
ENST00000643893.1:n.1902T>C
ENST00000644443.1:n.3497T>C
ENST00000644523.1:n.1655T>C
ENST00000644527.1:c.*373T>C	ENSP00000493974.1:n.*373T>C
ENST00000644701.1:c.*596T>C	ENSP00000496097.1:n.*596T>C
ENST00000644909.1:c.*878T>C	ENSP00000493649.1:n.*878T>C
ENST00000645152.1:n.2272T>C
ENST00000645227.1:c.*1297T>C	ENSP00000495021.1:n.*1297T>C
ENST00000646242.1:n.7521T>C
ENST00000646283.1:c.*373T>C	ENSP00000494537.1:n.*373T>C
ENST00000646401.1:n.2975T>C
ENST00000646856.1:c.*1485T>C	ENSP00000494505.1:n.*1485T>C
ENST00000647294.1:c.*1539T>C	ENSP00000494815.1:n.*1539T>C
ENST00000647508.1:c.*373T>C	ENSP00000496445.1:n.*373T>C
ENST00000647515.1:c.*1140T>C	ENSP00000495857.1:n.*1140T>C
ENST00000348513.10:c.*373T>C	ENSP00000323967.6:n.*373T>C
ENST00000578112.5:c.*1406T>C	ENSP00000464501.1:n.*1406T>C
NM_003079.4:c.*373T>C	NP_003070.3:n.*373T>C
NM_003079.5:c.*373T>C MANE Select	NP_003070.3:n.*373T>C