Canonical Allele Identifier: CA8545038

Gene: SMARCE1

Linked Data

• dbSNP Id: rs747351773
• ExAC: 17:38785029 G / A
• gnomAD v2: 17-38785029-G-A
• gnomAD v4: 17-40628777-G-A
• MyVariant Identifiers: chr17:g.38785029G>A (hg19) ; chr17:g.40628777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628777G>A , CM000679.2:g.40628777G>A	GRCh38
NC_000017.10:g.38785029G>A , CM000679.1:g.38785029G>A	GRCh37
NC_000017.9:g.36038555G>A	NCBI36
NG_032163.1:g.24075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*806C>T	ENSP00000466608.2:n.*806C>T
ENST00000348513.12:c.*8C>T MANE Select	ENSP00000323967.6:n.*8C>T
ENST00000377808.9:c.*231C>T	ENSP00000367039.4:n.*231C>T
ENST00000400122.8:c.*231C>T	ENSP00000411607.2:n.*231C>T
ENST00000469334.6:n.1842C>T
ENST00000578112.6:c.*1041C>T	ENSP00000464501.1:n.*1041C>T
ENST00000580419.6:c.*223C>T	ENSP00000462475.2:n.*223C>T
ENST00000642576.1:n.2387C>T
ENST00000643030.1:n.1867C>T
ENST00000643255.1:c.*3308C>T	ENSP00000493957.1:n.*3308C>T
ENST00000643318.1:c.*8C>T	ENSP00000494771.1:n.*8C>T
ENST00000643378.1:n.1799C>T
ENST00000643683.1:c.*8C>T	ENSP00000496094.1:n.*8C>T
ENST00000643893.1:n.1537C>T
ENST00000644443.1:n.3132C>T
ENST00000644523.1:n.1290C>T
ENST00000644527.1:c.*8C>T	ENSP00000493974.1:n.*8C>T
ENST00000644701.1:c.*231C>T	ENSP00000496097.1:n.*231C>T
ENST00000644909.1:c.*513C>T	ENSP00000493649.1:n.*513C>T
ENST00000645152.1:n.1907C>T
ENST00000645227.1:c.*932C>T	ENSP00000495021.1:n.*932C>T
ENST00000646242.1:n.7156C>T
ENST00000646283.1:c.*8C>T	ENSP00000494537.1:n.*8C>T
ENST00000646401.1:n.2610C>T
ENST00000646448.1:n.2518C>T
ENST00000646856.1:c.*1120C>T	ENSP00000494505.1:n.*1120C>T
ENST00000647294.1:c.*1174C>T	ENSP00000494815.1:n.*1174C>T
ENST00000647508.1:c.*8C>T	ENSP00000496445.1:n.*8C>T
ENST00000647515.1:c.*775C>T	ENSP00000495857.1:n.*775C>T
ENST00000348513.10:c.*8C>T	ENSP00000323967.6:n.*8C>T
ENST00000431889.6:c.*8C>T	ENSP00000445370.1:n.*8C>T
ENST00000469334.5:n.1831C>T
ENST00000578112.5:c.*1041C>T	ENSP00000464501.1:n.*1041C>T
NM_003079.4:c.*8C>T	NP_003070.3:n.*8C>T
NM_003079.5:c.*8C>T MANE Select	NP_003070.3:n.*8C>T