Canonical Allele Identifier: CA399360874

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1361984
• ClinVar RCV Id: RCV001899948 ; RCV003299060
• dbSNP Id: rs1397941319
• gnomAD v2: 17-38785077-G-A
• gnomAD v4: 17-40628825-G-A
• MyVariant Identifiers: chr17:g.38785077G>A (hg19) ; chr17:g.40628825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628825G>A , CM000679.2:g.40628825G>A	GRCh38
NC_000017.10:g.38785077G>A , CM000679.1:g.38785077G>A	GRCh37
NC_000017.9:g.36038603G>A	NCBI36
NG_032163.1:g.24027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*758C>T	ENSP00000466608.2:n.*758C>T
ENST00000348513.12:c.1196C>T MANE Select	ENSP00000323967.6:p.Pro399Leu
ENST00000377808.9:c.*183C>T	ENSP00000367039.4:n.*183C>T
ENST00000400122.8:c.*183C>T	ENSP00000411607.2:n.*183C>T
ENST00000469334.6:n.1794C>T
ENST00000578044.6:c.986C>T	ENSP00000464511.1:p.Pro329Leu
ENST00000578112.6:c.*993C>T	ENSP00000464501.1:n.*993C>T
ENST00000580419.6:c.*175C>T	ENSP00000462475.2:n.*175C>T
ENST00000642576.1:n.2339C>T
ENST00000643030.1:n.1819C>T
ENST00000643255.1:c.*3260C>T	ENSP00000493957.1:n.*3260C>T
ENST00000643318.1:c.986C>T	ENSP00000494771.1:p.Pro329Leu
ENST00000643378.1:n.1751C>T
ENST00000643683.1:c.1196C>T	ENSP00000496094.1:p.Pro399Leu
ENST00000643893.1:n.1489C>T
ENST00000644443.1:n.3084C>T
ENST00000644523.1:n.1242C>T
ENST00000644527.1:c.968C>T	ENSP00000493974.1:p.Pro323Leu
ENST00000644701.1:c.*183C>T	ENSP00000496097.1:n.*183C>T
ENST00000644909.1:c.*465C>T	ENSP00000493649.1:n.*465C>T
ENST00000645152.1:n.1859C>T
ENST00000645227.1:c.*884C>T	ENSP00000495021.1:n.*884C>T
ENST00000646242.1:n.7108C>T
ENST00000646283.1:c.1004C>T	ENSP00000494537.1:p.Pro335Leu
ENST00000646401.1:n.2562C>T
ENST00000646448.1:n.2470C>T
ENST00000646856.1:c.*1072C>T	ENSP00000494505.1:n.*1072C>T
ENST00000647294.1:c.*1126C>T	ENSP00000494815.1:n.*1126C>T
ENST00000647508.1:c.1091C>T	ENSP00000496445.1:p.Pro364Leu
ENST00000647515.1:c.*727C>T	ENSP00000495857.1:n.*727C>T
ENST00000348513.10:c.1196C>T	ENSP00000323967.6:p.Pro399Leu
ENST00000377808.8:c.*183C>T	ENSP00000367039.4:n.*183C>T
ENST00000400122.7:c.*183C>T	ENSP00000411607.2:n.*183C>T
ENST00000431889.6:c.1142C>T	ENSP00000445370.1:p.Pro381Leu
ENST00000469334.5:n.1783C>T
ENST00000476049.1:c.*1544C>T	ENSP00000463483.1:n.*1544C>T
ENST00000578044.5:c.986C>T	ENSP00000464511.1:p.Pro329Leu
ENST00000578112.5:c.*993C>T	ENSP00000464501.1:n.*993C>T
ENST00000580419.5:c.1091C>T	ENSP00000462475.1:p.Pro364Leu
NM_003079.4:c.1196C>T	NP_003070.3:p.Pro399Leu
NM_003079.5:c.1196C>T MANE Select	NP_003070.3:p.Pro399Leu