Canonical Allele Identifier: CA8545031

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1555605049
• ExAC: 17:38784987 A / C
• gnomAD v2: 17-38784987-A-C
• gnomAD v4: 17-40628735-A-C
• MyVariant Identifiers: chr17:g.38784987A>C (hg19) ; chr17:g.38784987_38784988delinsCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628735A>C , CM000679.2:g.40628735A>C	GRCh38
NC_000017.10:g.38784987A>C , CM000679.1:g.38784987A>C	GRCh37
NC_000017.9:g.36038513A>C	NCBI36
NG_032163.1:g.24117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*848T>G	ENSP00000466608.2:n.*848T>G
ENST00000348513.12:c.*50T>G MANE Select	ENSP00000323967.6:n.*50T>G
ENST00000377808.9:c.*273T>G	ENSP00000367039.4:n.*273T>G
ENST00000400122.8:c.*273T>G	ENSP00000411607.2:n.*273T>G
ENST00000469334.6:n.1884T>G
ENST00000578112.6:c.*1083T>G	ENSP00000464501.1:n.*1083T>G
ENST00000580419.6:c.*265T>G	ENSP00000462475.2:n.*265T>G
ENST00000642576.1:n.2429T>G
ENST00000643030.1:n.1909T>G
ENST00000643255.1:c.*3350T>G	ENSP00000493957.1:n.*3350T>G
ENST00000643318.1:c.*50T>G	ENSP00000494771.1:n.*50T>G
ENST00000643378.1:n.1841T>G
ENST00000643683.1:c.*50T>G	ENSP00000496094.1:n.*50T>G
ENST00000643893.1:n.1579T>G
ENST00000644443.1:n.3174T>G
ENST00000644523.1:n.1332T>G
ENST00000644527.1:c.*50T>G	ENSP00000493974.1:n.*50T>G
ENST00000644701.1:c.*273T>G	ENSP00000496097.1:n.*273T>G
ENST00000644909.1:c.*555T>G	ENSP00000493649.1:n.*555T>G
ENST00000645152.1:n.1949T>G
ENST00000645227.1:c.*974T>G	ENSP00000495021.1:n.*974T>G
ENST00000646242.1:n.7198T>G
ENST00000646283.1:c.*50T>G	ENSP00000494537.1:n.*50T>G
ENST00000646401.1:n.2652T>G
ENST00000646856.1:c.*1162T>G	ENSP00000494505.1:n.*1162T>G
ENST00000647294.1:c.*1216T>G	ENSP00000494815.1:n.*1216T>G
ENST00000647508.1:c.*50T>G	ENSP00000496445.1:n.*50T>G
ENST00000647515.1:c.*817T>G	ENSP00000495857.1:n.*817T>G
ENST00000348513.10:c.*50T>G	ENSP00000323967.6:n.*50T>G
ENST00000431889.6:c.*50T>G	ENSP00000445370.1:n.*50T>G
ENST00000469334.5:n.1873T>G
ENST00000578112.5:c.*1083T>G	ENSP00000464501.1:n.*1083T>G
NM_003079.4:c.*50T>G	NP_003070.3:n.*50T>G
NM_003079.5:c.*50T>G MANE Select	NP_003070.3:n.*50T>G