Canonical Allele Identifier: CA399360717

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628796-T-A
• MyVariant Identifiers: chr17:g.38785048T>A (hg19) ; chr17:g.40628796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628796T>A , CM000679.2:g.40628796T>A	GRCh38
NC_000017.10:g.38785048T>A , CM000679.1:g.38785048T>A	GRCh37
NC_000017.9:g.36038574T>A	NCBI36
NG_032163.1:g.24056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*787A>T	ENSP00000466608.2:n.*787A>T
ENST00000348513.12:c.1225A>T MANE Select	ENSP00000323967.6:p.Lys409Ter
ENST00000377808.9:c.*212A>T	ENSP00000367039.4:n.*212A>T
ENST00000400122.8:c.*212A>T	ENSP00000411607.2:n.*212A>T
ENST00000469334.6:n.1823A>T
ENST00000578044.6:c.1015A>T	ENSP00000464511.1:p.Lys339Ter
ENST00000578112.6:c.*1022A>T	ENSP00000464501.1:n.*1022A>T
ENST00000580419.6:c.*204A>T	ENSP00000462475.2:n.*204A>T
ENST00000642576.1:n.2368A>T
ENST00000643030.1:n.1848A>T
ENST00000643255.1:c.*3289A>T	ENSP00000493957.1:n.*3289A>T
ENST00000643318.1:c.1015A>T	ENSP00000494771.1:p.Lys339Ter
ENST00000643378.1:n.1780A>T
ENST00000643683.1:c.1225A>T	ENSP00000496094.1:p.Lys409Ter
ENST00000643893.1:n.1518A>T
ENST00000644443.1:n.3113A>T
ENST00000644523.1:n.1271A>T
ENST00000644527.1:c.997A>T	ENSP00000493974.1:p.Lys333Ter
ENST00000644701.1:c.*212A>T	ENSP00000496097.1:n.*212A>T
ENST00000644909.1:c.*494A>T	ENSP00000493649.1:n.*494A>T
ENST00000645152.1:n.1888A>T
ENST00000645227.1:c.*913A>T	ENSP00000495021.1:n.*913A>T
ENST00000646242.1:n.7137A>T
ENST00000646283.1:c.1033A>T	ENSP00000494537.1:p.Lys345Ter
ENST00000646401.1:n.2591A>T
ENST00000646448.1:n.2499A>T
ENST00000646856.1:c.*1101A>T	ENSP00000494505.1:n.*1101A>T
ENST00000647294.1:c.*1155A>T	ENSP00000494815.1:n.*1155A>T
ENST00000647508.1:c.1120A>T	ENSP00000496445.1:p.Lys374Ter
ENST00000647515.1:c.*756A>T	ENSP00000495857.1:n.*756A>T
ENST00000348513.10:c.1225A>T	ENSP00000323967.6:p.Lys409Ter
ENST00000377808.8:c.*212A>T	ENSP00000367039.4:n.*212A>T
ENST00000400122.7:c.*212A>T	ENSP00000411607.2:n.*212A>T
ENST00000431889.6:c.1171A>T	ENSP00000445370.1:p.Lys391Ter
ENST00000469334.5:n.1812A>T
ENST00000578044.5:c.1015A>T	ENSP00000464511.1:p.Lys339Ter
ENST00000578112.5:c.*1022A>T	ENSP00000464501.1:n.*1022A>T
ENST00000580419.5:c.1120A>T	ENSP00000462475.1:p.Lys374Ter
NM_003079.4:c.1225A>T	NP_003070.3:p.Lys409Ter
NM_003079.5:c.1225A>T MANE Select	NP_003070.3:p.Lys409Ter