Canonical Allele Identifier: CA2637750232

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628775-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628775A>T , CM000679.2:g.40628775A>T	GRCh38
NC_000017.10:g.38785027A>T , CM000679.1:g.38785027A>T	GRCh37
NC_000017.9:g.36038553A>T	NCBI36
NG_032163.1:g.24077T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*808T>A	ENSP00000466608.2:n.*808T>A
ENST00000348513.12:c.*10T>A MANE Select	ENSP00000323967.6:n.*10T>A
ENST00000377808.9:c.*233T>A	ENSP00000367039.4:n.*233T>A
ENST00000400122.8:c.*233T>A	ENSP00000411607.2:n.*233T>A
ENST00000469334.6:n.1844T>A
ENST00000578112.6:c.*1043T>A	ENSP00000464501.1:n.*1043T>A
ENST00000580419.6:c.*225T>A	ENSP00000462475.2:n.*225T>A
ENST00000642576.1:n.2389T>A
ENST00000643030.1:n.1869T>A
ENST00000643255.1:c.*3310T>A	ENSP00000493957.1:n.*3310T>A
ENST00000643318.1:c.*10T>A	ENSP00000494771.1:n.*10T>A
ENST00000643378.1:n.1801T>A
ENST00000643683.1:c.*10T>A	ENSP00000496094.1:n.*10T>A
ENST00000643893.1:n.1539T>A
ENST00000644443.1:n.3134T>A
ENST00000644523.1:n.1292T>A
ENST00000644527.1:c.*10T>A	ENSP00000493974.1:n.*10T>A
ENST00000644701.1:c.*233T>A	ENSP00000496097.1:n.*233T>A
ENST00000644909.1:c.*515T>A	ENSP00000493649.1:n.*515T>A
ENST00000645152.1:n.1909T>A
ENST00000645227.1:c.*934T>A	ENSP00000495021.1:n.*934T>A
ENST00000646242.1:n.7158T>A
ENST00000646283.1:c.*10T>A	ENSP00000494537.1:n.*10T>A
ENST00000646401.1:n.2612T>A
ENST00000646856.1:c.*1122T>A	ENSP00000494505.1:n.*1122T>A
ENST00000647294.1:c.*1176T>A	ENSP00000494815.1:n.*1176T>A
ENST00000647508.1:c.*10T>A	ENSP00000496445.1:n.*10T>A
ENST00000647515.1:c.*777T>A	ENSP00000495857.1:n.*777T>A
ENST00000348513.10:c.*10T>A	ENSP00000323967.6:n.*10T>A
ENST00000431889.6:c.*10T>A	ENSP00000445370.1:n.*10T>A
ENST00000469334.5:n.1833T>A
ENST00000578112.5:c.*1043T>A	ENSP00000464501.1:n.*1043T>A
NM_003079.4:c.*10T>A	NP_003070.3:n.*10T>A
NM_003079.5:c.*10T>A MANE Select	NP_003070.3:n.*10T>A