Canonical Allele Identifier: CA8545054

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 2727447
• ClinVar RCV Id: RCV003526971
• dbSNP Id: rs573977743
• ExAC: 17:38785109 G / T
• gnomAD v2: 17-38785109-G-T
• gnomAD v3: 17-40628857-G-T
• gnomAD v4: 17-40628857-G-T
• MyVariant Identifiers: chr17:g.38785109G>T (hg19) ; chr17:g.40628857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628857G>T , CM000679.2:g.40628857G>T	GRCh38
NC_000017.10:g.38785109G>T , CM000679.1:g.38785109G>T	GRCh37
NC_000017.9:g.36038635G>T	NCBI36
NG_032163.1:g.23995C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*726C>A	ENSP00000466608.2:n.*726C>A
ENST00000348513.12:c.1164C>A MANE Select	ENSP00000323967.6:p.Gly388=
ENST00000377808.9:c.*151C>A	ENSP00000367039.4:n.*151C>A
ENST00000400122.8:c.*151C>A	ENSP00000411607.2:n.*151C>A
ENST00000469334.6:n.1762C>A
ENST00000578044.6:c.954C>A	ENSP00000464511.1:p.Gly318=
ENST00000578112.6:c.*961C>A	ENSP00000464501.1:n.*961C>A
ENST00000580419.6:c.*143C>A	ENSP00000462475.2:n.*143C>A
ENST00000642576.1:n.2307C>A
ENST00000643030.1:n.1787C>A
ENST00000643255.1:c.*3228C>A	ENSP00000493957.1:n.*3228C>A
ENST00000643318.1:c.954C>A	ENSP00000494771.1:p.Gly318=
ENST00000643378.1:n.1719C>A
ENST00000643683.1:c.1164C>A	ENSP00000496094.1:p.Gly388=
ENST00000643893.1:n.1457C>A
ENST00000644443.1:n.3052C>A
ENST00000644523.1:n.1210C>A
ENST00000644527.1:c.936C>A	ENSP00000493974.1:p.Gly312=
ENST00000644701.1:c.*151C>A	ENSP00000496097.1:n.*151C>A
ENST00000644909.1:c.*433C>A	ENSP00000493649.1:n.*433C>A
ENST00000645152.1:n.1827C>A
ENST00000645227.1:c.*852C>A	ENSP00000495021.1:n.*852C>A
ENST00000646242.1:n.7076C>A
ENST00000646283.1:c.972C>A	ENSP00000494537.1:p.Gly324=
ENST00000646401.1:n.2530C>A
ENST00000646448.1:n.2438C>A
ENST00000646856.1:c.*1040C>A	ENSP00000494505.1:n.*1040C>A
ENST00000647294.1:c.*1094C>A	ENSP00000494815.1:n.*1094C>A
ENST00000647508.1:c.1059C>A	ENSP00000496445.1:p.Gly353=
ENST00000647515.1:c.*695C>A	ENSP00000495857.1:n.*695C>A
ENST00000348513.10:c.1164C>A	ENSP00000323967.6:p.Gly388=
ENST00000377808.8:c.*151C>A	ENSP00000367039.4:n.*151C>A
ENST00000400122.7:c.*151C>A	ENSP00000411607.2:n.*151C>A
ENST00000431889.6:c.1110C>A	ENSP00000445370.1:p.Gly370=
ENST00000469334.5:n.1751C>A
ENST00000476049.1:c.*1512C>A	ENSP00000463483.1:n.*1512C>A
ENST00000578044.5:c.954C>A	ENSP00000464511.1:p.Gly318=
ENST00000578112.5:c.*961C>A	ENSP00000464501.1:n.*961C>A
ENST00000580419.5:c.1059C>A	ENSP00000462475.1:p.Gly353=
NM_003079.4:c.1164C>A	NP_003070.3:p.Gly388=
NM_003079.5:c.1164C>A MANE Select	NP_003070.3:p.Gly388=