Canonical Allele Identifier: CA399360667

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785039A>G (hg19) ; chr17:g.40628787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628787A>G , CM000679.2:g.40628787A>G	GRCh38
NC_000017.10:g.38785039A>G , CM000679.1:g.38785039A>G	GRCh37
NC_000017.9:g.36038565A>G	NCBI36
NG_032163.1:g.24065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*796T>C	ENSP00000466608.2:n.*796T>C
ENST00000348513.12:c.1234T>C MANE Select	ENSP00000323967.6:p.Ter412Gln
ENST00000377808.9:c.*221T>C	ENSP00000367039.4:n.*221T>C
ENST00000400122.8:c.*221T>C	ENSP00000411607.2:n.*221T>C
ENST00000469334.6:n.1832T>C
ENST00000578044.6:c.1024T>C	ENSP00000464511.1:p.Ter342Gln
ENST00000578112.6:c.*1031T>C	ENSP00000464501.1:n.*1031T>C
ENST00000580419.6:c.*213T>C	ENSP00000462475.2:n.*213T>C
ENST00000642576.1:n.2377T>C
ENST00000643030.1:n.1857T>C
ENST00000643255.1:c.*3298T>C	ENSP00000493957.1:n.*3298T>C
ENST00000643318.1:c.1024T>C	ENSP00000494771.1:p.Ter342Gln
ENST00000643378.1:n.1789T>C
ENST00000643683.1:c.1234T>C	ENSP00000496094.1:p.Ter412Gln
ENST00000643893.1:n.1527T>C
ENST00000644443.1:n.3122T>C
ENST00000644523.1:n.1280T>C
ENST00000644527.1:c.1006T>C	ENSP00000493974.1:p.Ter336Gln
ENST00000644701.1:c.*221T>C	ENSP00000496097.1:n.*221T>C
ENST00000644909.1:c.*503T>C	ENSP00000493649.1:n.*503T>C
ENST00000645152.1:n.1897T>C
ENST00000645227.1:c.*922T>C	ENSP00000495021.1:n.*922T>C
ENST00000646242.1:n.7146T>C
ENST00000646283.1:c.1042T>C	ENSP00000494537.1:p.Ter348Gln
ENST00000646401.1:n.2600T>C
ENST00000646448.1:n.2508T>C
ENST00000646856.1:c.*1110T>C	ENSP00000494505.1:n.*1110T>C
ENST00000647294.1:c.*1164T>C	ENSP00000494815.1:n.*1164T>C
ENST00000647508.1:c.1129T>C	ENSP00000496445.1:p.Ter377Gln
ENST00000647515.1:c.*765T>C	ENSP00000495857.1:n.*765T>C
ENST00000348513.10:c.1234T>C	ENSP00000323967.6:p.Ter412Gln
ENST00000377808.8:c.*221T>C	ENSP00000367039.4:n.*221T>C
ENST00000400122.7:c.*221T>C	ENSP00000411607.2:n.*221T>C
ENST00000431889.6:c.1180T>C	ENSP00000445370.1:p.Ter394Gln
ENST00000469334.5:n.1821T>C
ENST00000578044.5:c.1024T>C	ENSP00000464511.1:p.Ter342Gln
ENST00000578112.5:c.*1031T>C	ENSP00000464501.1:n.*1031T>C
ENST00000580419.5:c.1129T>C	ENSP00000462475.1:p.Ter377Gln
NM_003079.4:c.1234T>C	NP_003070.3:p.Ter412Gln
NM_003079.5:c.1234T>C MANE Select	NP_003070.3:p.Ter412Gln