Canonical Allele Identifier: CA2637749995

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628430-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628430T>C , CM000679.2:g.40628430T>C	GRCh38
NC_000017.10:g.38784682T>C , CM000679.1:g.38784682T>C	GRCh37
NC_000017.9:g.36038208T>C	NCBI36
NG_032163.1:g.24422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1153A>G	ENSP00000466608.2:n.*1153A>G
ENST00000348513.12:c.*355A>G MANE Select	ENSP00000323967.6:n.*355A>G
ENST00000377808.9:c.*578A>G	ENSP00000367039.4:n.*578A>G
ENST00000400122.8:c.*578A>G	ENSP00000411607.2:n.*578A>G
ENST00000469334.6:n.2189A>G
ENST00000578112.6:c.*1388A>G	ENSP00000464501.1:n.*1388A>G
ENST00000580419.6:c.*570A>G	ENSP00000462475.2:n.*570A>G
ENST00000642576.1:n.2734A>G
ENST00000643030.1:n.2214A>G
ENST00000643255.1:c.*3655A>G	ENSP00000493957.1:n.*3655A>G
ENST00000643318.1:c.*355A>G	ENSP00000494771.1:n.*355A>G
ENST00000643378.1:n.2146A>G
ENST00000643683.1:c.*355A>G	ENSP00000496094.1:n.*355A>G
ENST00000643893.1:n.1884A>G
ENST00000644443.1:n.3479A>G
ENST00000644523.1:n.1637A>G
ENST00000644527.1:c.*355A>G	ENSP00000493974.1:n.*355A>G
ENST00000644701.1:c.*578A>G	ENSP00000496097.1:n.*578A>G
ENST00000644909.1:c.*860A>G	ENSP00000493649.1:n.*860A>G
ENST00000645152.1:n.2254A>G
ENST00000645227.1:c.*1279A>G	ENSP00000495021.1:n.*1279A>G
ENST00000646242.1:n.7503A>G
ENST00000646283.1:c.*355A>G	ENSP00000494537.1:n.*355A>G
ENST00000646401.1:n.2957A>G
ENST00000646856.1:c.*1467A>G	ENSP00000494505.1:n.*1467A>G
ENST00000647294.1:c.*1521A>G	ENSP00000494815.1:n.*1521A>G
ENST00000647508.1:c.*355A>G	ENSP00000496445.1:n.*355A>G
ENST00000647515.1:c.*1122A>G	ENSP00000495857.1:n.*1122A>G
ENST00000348513.10:c.*355A>G	ENSP00000323967.6:n.*355A>G
ENST00000578112.5:c.*1388A>G	ENSP00000464501.1:n.*1388A>G
NM_003079.4:c.*355A>G	NP_003070.3:n.*355A>G
NM_003079.5:c.*355A>G MANE Select	NP_003070.3:n.*355A>G