Canonical Allele Identifier: CA399360661

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785038T>G (hg19) ; chr17:g.40628786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628786T>G , CM000679.2:g.40628786T>G	GRCh38
NC_000017.10:g.38785038T>G , CM000679.1:g.38785038T>G	GRCh37
NC_000017.9:g.36038564T>G	NCBI36
NG_032163.1:g.24066A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*797A>C	ENSP00000466608.2:n.*797A>C
ENST00000348513.12:c.1235A>C MANE Select	ENSP00000323967.6:p.Ter412Ser
ENST00000377808.9:c.*222A>C	ENSP00000367039.4:n.*222A>C
ENST00000400122.8:c.*222A>C	ENSP00000411607.2:n.*222A>C
ENST00000469334.6:n.1833A>C
ENST00000578044.6:c.1025A>C	ENSP00000464511.1:p.Ter342Ser
ENST00000578112.6:c.*1032A>C	ENSP00000464501.1:n.*1032A>C
ENST00000580419.6:c.*214A>C	ENSP00000462475.2:n.*214A>C
ENST00000642576.1:n.2378A>C
ENST00000643030.1:n.1858A>C
ENST00000643255.1:c.*3299A>C	ENSP00000493957.1:n.*3299A>C
ENST00000643318.1:c.1025A>C	ENSP00000494771.1:p.Ter342Ser
ENST00000643378.1:n.1790A>C
ENST00000643683.1:c.1235A>C	ENSP00000496094.1:p.Ter412Ser
ENST00000643893.1:n.1528A>C
ENST00000644443.1:n.3123A>C
ENST00000644523.1:n.1281A>C
ENST00000644527.1:c.1007A>C	ENSP00000493974.1:p.Ter336Ser
ENST00000644701.1:c.*222A>C	ENSP00000496097.1:n.*222A>C
ENST00000644909.1:c.*504A>C	ENSP00000493649.1:n.*504A>C
ENST00000645152.1:n.1898A>C
ENST00000645227.1:c.*923A>C	ENSP00000495021.1:n.*923A>C
ENST00000646242.1:n.7147A>C
ENST00000646283.1:c.1043A>C	ENSP00000494537.1:p.Ter348Ser
ENST00000646401.1:n.2601A>C
ENST00000646448.1:n.2509A>C
ENST00000646856.1:c.*1111A>C	ENSP00000494505.1:n.*1111A>C
ENST00000647294.1:c.*1165A>C	ENSP00000494815.1:n.*1165A>C
ENST00000647508.1:c.1130A>C	ENSP00000496445.1:p.Ter377Ser
ENST00000647515.1:c.*766A>C	ENSP00000495857.1:n.*766A>C
ENST00000348513.10:c.1235A>C	ENSP00000323967.6:p.Ter412Ser
ENST00000377808.8:c.*222A>C	ENSP00000367039.4:n.*222A>C
ENST00000400122.7:c.*222A>C	ENSP00000411607.2:n.*222A>C
ENST00000431889.6:c.1181A>C	ENSP00000445370.1:p.Ter394Ser
ENST00000469334.5:n.1822A>C
ENST00000578044.5:c.1025A>C	ENSP00000464511.1:p.Ter342Ser
ENST00000578112.5:c.*1032A>C	ENSP00000464501.1:n.*1032A>C
ENST00000580419.5:c.1130A>C	ENSP00000462475.1:p.Ter377Ser
NM_003079.4:c.1235A>C	NP_003070.3:p.Ter412Ser
NM_003079.5:c.1235A>C MANE Select	NP_003070.3:p.Ter412Ser