Canonical Allele Identifier: CA8545071

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 532249
• ClinVar RCV Id: RCV000638926 ; RCV002406373
• dbSNP Id: rs151220618
• ExAC: 17:38785206 T / C
• gnomAD v2: 17-38785206-T-C
• gnomAD v3: 17-40628954-T-C
• gnomAD v4: 17-40628954-T-C
• MyVariant Identifiers: chr17:g.38785206T>C (hg19) ; chr17:g.40628954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628954T>C , CM000679.2:g.40628954T>C	GRCh38
NC_000017.10:g.38785206T>C , CM000679.1:g.38785206T>C	GRCh37
NC_000017.9:g.36038732T>C	NCBI36
NG_032163.1:g.23898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*629A>G	ENSP00000466608.2:n.*629A>G
ENST00000348513.12:c.1067A>G MANE Select	ENSP00000323967.6:p.Asn356Ser
ENST00000377808.9:c.*54A>G	ENSP00000367039.4:n.*54A>G
ENST00000400122.8:c.*54A>G	ENSP00000411607.2:n.*54A>G
ENST00000469334.6:n.1665A>G
ENST00000578044.6:c.857A>G	ENSP00000464511.1:p.Asn286Ser
ENST00000578112.6:c.*864A>G	ENSP00000464501.1:n.*864A>G
ENST00000580419.6:c.*46A>G	ENSP00000462475.2:n.*46A>G
ENST00000642576.1:n.2210A>G
ENST00000643030.1:n.1690A>G
ENST00000643255.1:c.*3131A>G	ENSP00000493957.1:n.*3131A>G
ENST00000643318.1:c.857A>G	ENSP00000494771.1:p.Asn286Ser
ENST00000643378.1:n.1622A>G
ENST00000643683.1:c.1067A>G	ENSP00000496094.1:p.Asn356Ser
ENST00000643893.1:n.1360A>G
ENST00000644443.1:n.2955A>G
ENST00000644523.1:n.1113A>G
ENST00000644527.1:c.839A>G	ENSP00000493974.1:p.Asn280Ser
ENST00000644701.1:c.*54A>G	ENSP00000496097.1:n.*54A>G
ENST00000644909.1:c.*336A>G	ENSP00000493649.1:n.*336A>G
ENST00000645152.1:n.1730A>G
ENST00000645227.1:c.*755A>G	ENSP00000495021.1:n.*755A>G
ENST00000646242.1:n.6979A>G
ENST00000646283.1:c.875A>G	ENSP00000494537.1:p.Asn292Ser
ENST00000646401.1:n.2433A>G
ENST00000646448.1:n.2341A>G
ENST00000646856.1:c.*943A>G	ENSP00000494505.1:n.*943A>G
ENST00000647294.1:c.*997A>G	ENSP00000494815.1:n.*997A>G
ENST00000647508.1:c.962A>G	ENSP00000496445.1:p.Asn321Ser
ENST00000647515.1:c.*598A>G	ENSP00000495857.1:n.*598A>G
ENST00000348513.10:c.1067A>G	ENSP00000323967.6:p.Asn356Ser
ENST00000377808.8:c.*54A>G	ENSP00000367039.4:n.*54A>G
ENST00000400122.7:c.*54A>G	ENSP00000411607.2:n.*54A>G
ENST00000431889.6:c.1013A>G	ENSP00000445370.1:p.Asn338Ser
ENST00000469334.5:n.1654A>G
ENST00000476049.1:c.*1415A>G	ENSP00000463483.1:n.*1415A>G
ENST00000578044.5:c.857A>G	ENSP00000464511.1:p.Asn286Ser
ENST00000578112.5:c.*864A>G	ENSP00000464501.1:n.*864A>G
ENST00000580419.5:c.962A>G	ENSP00000462475.1:p.Asn321Ser
NM_003079.4:c.1067A>G	NP_003070.3:p.Asn356Ser
NM_003079.5:c.1067A>G MANE Select	NP_003070.3:p.Asn356Ser