Canonical Allele Identifier: CA2637750057

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628543-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628543T>C , CM000679.2:g.40628543T>C	GRCh38
NC_000017.10:g.38784795T>C , CM000679.1:g.38784795T>C	GRCh37
NC_000017.9:g.36038321T>C	NCBI36
NG_032163.1:g.24309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1040A>G	ENSP00000466608.2:n.*1040A>G
ENST00000348513.12:c.*242A>G MANE Select	ENSP00000323967.6:n.*242A>G
ENST00000377808.9:c.*465A>G	ENSP00000367039.4:n.*465A>G
ENST00000400122.8:c.*465A>G	ENSP00000411607.2:n.*465A>G
ENST00000469334.6:n.2076A>G
ENST00000578112.6:c.*1275A>G	ENSP00000464501.1:n.*1275A>G
ENST00000580419.6:c.*457A>G	ENSP00000462475.2:n.*457A>G
ENST00000642576.1:n.2621A>G
ENST00000643030.1:n.2101A>G
ENST00000643255.1:c.*3542A>G	ENSP00000493957.1:n.*3542A>G
ENST00000643318.1:c.*242A>G	ENSP00000494771.1:n.*242A>G
ENST00000643378.1:n.2033A>G
ENST00000643683.1:c.*242A>G	ENSP00000496094.1:n.*242A>G
ENST00000643893.1:n.1771A>G
ENST00000644443.1:n.3366A>G
ENST00000644523.1:n.1524A>G
ENST00000644527.1:c.*242A>G	ENSP00000493974.1:n.*242A>G
ENST00000644701.1:c.*465A>G	ENSP00000496097.1:n.*465A>G
ENST00000644909.1:c.*747A>G	ENSP00000493649.1:n.*747A>G
ENST00000645152.1:n.2141A>G
ENST00000645227.1:c.*1166A>G	ENSP00000495021.1:n.*1166A>G
ENST00000646242.1:n.7390A>G
ENST00000646283.1:c.*242A>G	ENSP00000494537.1:n.*242A>G
ENST00000646401.1:n.2844A>G
ENST00000646856.1:c.*1354A>G	ENSP00000494505.1:n.*1354A>G
ENST00000647294.1:c.*1408A>G	ENSP00000494815.1:n.*1408A>G
ENST00000647508.1:c.*242A>G	ENSP00000496445.1:n.*242A>G
ENST00000647515.1:c.*1009A>G	ENSP00000495857.1:n.*1009A>G
ENST00000348513.10:c.*242A>G	ENSP00000323967.6:n.*242A>G
ENST00000431889.6:c.*242A>G	ENSP00000445370.1:n.*242A>G
ENST00000469334.5:n.2065A>G
ENST00000578112.5:c.*1275A>G	ENSP00000464501.1:n.*1275A>G
NM_003079.4:c.*242A>G	NP_003070.3:n.*242A>G
NM_003079.5:c.*242A>G MANE Select	NP_003070.3:n.*242A>G