Canonical Allele Identifier: CA8545035

Gene: SMARCE1

Linked Data

• dbSNP Id: rs748321156
• ExAC: 17:38785019 C / T
• gnomAD v2: 17-38785019-C-T
• gnomAD v3: 17-40628767-C-T
• gnomAD v4: 17-40628767-C-T
• MyVariant Identifiers: chr17:g.38785019C>T (hg19) ; chr17:g.40628767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628767C>T , CM000679.2:g.40628767C>T	GRCh38
NC_000017.10:g.38785019C>T , CM000679.1:g.38785019C>T	GRCh37
NC_000017.9:g.36038545C>T	NCBI36
NG_032163.1:g.24085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*816G>A	ENSP00000466608.2:n.*816G>A
ENST00000348513.12:c.*18G>A MANE Select	ENSP00000323967.6:n.*18G>A
ENST00000377808.9:c.*241G>A	ENSP00000367039.4:n.*241G>A
ENST00000400122.8:c.*241G>A	ENSP00000411607.2:n.*241G>A
ENST00000469334.6:n.1852G>A
ENST00000578112.6:c.*1051G>A	ENSP00000464501.1:n.*1051G>A
ENST00000580419.6:c.*233G>A	ENSP00000462475.2:n.*233G>A
ENST00000642576.1:n.2397G>A
ENST00000643030.1:n.1877G>A
ENST00000643255.1:c.*3318G>A	ENSP00000493957.1:n.*3318G>A
ENST00000643318.1:c.*18G>A	ENSP00000494771.1:n.*18G>A
ENST00000643378.1:n.1809G>A
ENST00000643683.1:c.*18G>A	ENSP00000496094.1:n.*18G>A
ENST00000643893.1:n.1547G>A
ENST00000644443.1:n.3142G>A
ENST00000644523.1:n.1300G>A
ENST00000644527.1:c.*18G>A	ENSP00000493974.1:n.*18G>A
ENST00000644701.1:c.*241G>A	ENSP00000496097.1:n.*241G>A
ENST00000644909.1:c.*523G>A	ENSP00000493649.1:n.*523G>A
ENST00000645152.1:n.1917G>A
ENST00000645227.1:c.*942G>A	ENSP00000495021.1:n.*942G>A
ENST00000646242.1:n.7166G>A
ENST00000646283.1:c.*18G>A	ENSP00000494537.1:n.*18G>A
ENST00000646401.1:n.2620G>A
ENST00000646856.1:c.*1130G>A	ENSP00000494505.1:n.*1130G>A
ENST00000647294.1:c.*1184G>A	ENSP00000494815.1:n.*1184G>A
ENST00000647508.1:c.*18G>A	ENSP00000496445.1:n.*18G>A
ENST00000647515.1:c.*785G>A	ENSP00000495857.1:n.*785G>A
ENST00000348513.10:c.*18G>A	ENSP00000323967.6:n.*18G>A
ENST00000431889.6:c.*18G>A	ENSP00000445370.1:n.*18G>A
ENST00000469334.5:n.1841G>A
ENST00000578112.5:c.*1051G>A	ENSP00000464501.1:n.*1051G>A
NM_003079.4:c.*18G>A	NP_003070.3:n.*18G>A
NM_003079.5:c.*18G>A MANE Select	NP_003070.3:n.*18G>A