Canonical Allele Identifier: CA2637749968

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628372-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628372G>T , CM000679.2:g.40628372G>T	GRCh38
NC_000017.10:g.38784624G>T , CM000679.1:g.38784624G>T	GRCh37
NC_000017.9:g.36038150G>T	NCBI36
NG_032163.1:g.24480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1211C>A	ENSP00000466608.2:n.*1211C>A
ENST00000348513.12:c.*413C>A MANE Select	ENSP00000323967.6:n.*413C>A
ENST00000377808.9:c.*636C>A	ENSP00000367039.4:n.*636C>A
ENST00000400122.8:c.*636C>A	ENSP00000411607.2:n.*636C>A
ENST00000469334.6:n.2247C>A
ENST00000578112.6:c.*1446C>A	ENSP00000464501.1:n.*1446C>A
ENST00000580419.6:c.*628C>A	ENSP00000462475.2:n.*628C>A
ENST00000642576.1:n.2792C>A
ENST00000643030.1:n.2272C>A
ENST00000643255.1:c.*3713C>A	ENSP00000493957.1:n.*3713C>A
ENST00000643318.1:c.*413C>A	ENSP00000494771.1:n.*413C>A
ENST00000643378.1:n.2204C>A
ENST00000643683.1:c.*413C>A	ENSP00000496094.1:n.*413C>A
ENST00000643893.1:n.1942C>A
ENST00000644443.1:n.3537C>A
ENST00000644523.1:n.1695C>A
ENST00000644527.1:c.*413C>A	ENSP00000493974.1:n.*413C>A
ENST00000644701.1:c.*636C>A	ENSP00000496097.1:n.*636C>A
ENST00000644909.1:c.*918C>A	ENSP00000493649.1:n.*918C>A
ENST00000645152.1:n.2312C>A
ENST00000645227.1:c.*1337C>A	ENSP00000495021.1:n.*1337C>A
ENST00000646242.1:n.7561C>A
ENST00000646283.1:c.*413C>A	ENSP00000494537.1:n.*413C>A
ENST00000646401.1:n.3015C>A
ENST00000646856.1:c.*1525C>A	ENSP00000494505.1:n.*1525C>A
ENST00000647294.1:c.*1579C>A	ENSP00000494815.1:n.*1579C>A
ENST00000647508.1:c.*413C>A	ENSP00000496445.1:n.*413C>A
ENST00000647515.1:c.*1180C>A	ENSP00000495857.1:n.*1180C>A
ENST00000348513.10:c.*413C>A	ENSP00000323967.6:n.*413C>A
ENST00000578112.5:c.*1446C>A	ENSP00000464501.1:n.*1446C>A
NM_003079.4:c.*413C>A	NP_003070.3:n.*413C>A
NM_003079.5:c.*413C>A MANE Select	NP_003070.3:n.*413C>A