Canonical Allele Identifier: CA399361646

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785211T>A (hg19) ; chr17:g.40628959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628959T>A , CM000679.2:g.40628959T>A	GRCh38
NC_000017.10:g.38785211T>A , CM000679.1:g.38785211T>A	GRCh37
NC_000017.9:g.36038737T>A	NCBI36
NG_032163.1:g.23893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*624A>T	ENSP00000466608.2:n.*624A>T
ENST00000348513.12:c.1062A>T MANE Select	ENSP00000323967.6:p.Gln354His
ENST00000377808.9:c.*49A>T	ENSP00000367039.4:n.*49A>T
ENST00000400122.8:c.*49A>T	ENSP00000411607.2:n.*49A>T
ENST00000469334.6:n.1660A>T
ENST00000578044.6:c.852A>T	ENSP00000464511.1:p.Gln284His
ENST00000578112.6:c.*859A>T	ENSP00000464501.1:n.*859A>T
ENST00000580419.6:c.*41A>T	ENSP00000462475.2:n.*41A>T
ENST00000642576.1:n.2205A>T
ENST00000643030.1:n.1685A>T
ENST00000643255.1:c.*3126A>T	ENSP00000493957.1:n.*3126A>T
ENST00000643318.1:c.852A>T	ENSP00000494771.1:p.Gln284His
ENST00000643378.1:n.1617A>T
ENST00000643683.1:c.1062A>T	ENSP00000496094.1:p.Gln354His
ENST00000643893.1:n.1355A>T
ENST00000644443.1:n.2950A>T
ENST00000644523.1:n.1108A>T
ENST00000644527.1:c.834A>T	ENSP00000493974.1:p.Gln278His
ENST00000644701.1:c.*49A>T	ENSP00000496097.1:n.*49A>T
ENST00000644909.1:c.*331A>T	ENSP00000493649.1:n.*331A>T
ENST00000645152.1:n.1725A>T
ENST00000645227.1:c.*750A>T	ENSP00000495021.1:n.*750A>T
ENST00000646242.1:n.6974A>T
ENST00000646283.1:c.870A>T	ENSP00000494537.1:p.Gln290His
ENST00000646401.1:n.2428A>T
ENST00000646448.1:n.2336A>T
ENST00000646856.1:c.*938A>T	ENSP00000494505.1:n.*938A>T
ENST00000647294.1:c.*992A>T	ENSP00000494815.1:n.*992A>T
ENST00000647508.1:c.957A>T	ENSP00000496445.1:p.Gln319His
ENST00000647515.1:c.*593A>T	ENSP00000495857.1:n.*593A>T
ENST00000348513.10:c.1062A>T	ENSP00000323967.6:p.Gln354His
ENST00000377808.8:c.*49A>T	ENSP00000367039.4:n.*49A>T
ENST00000400122.7:c.*49A>T	ENSP00000411607.2:n.*49A>T
ENST00000431889.6:c.1008A>T	ENSP00000445370.1:p.Gln336His
ENST00000469334.5:n.1649A>T
ENST00000476049.1:c.*1410A>T	ENSP00000463483.1:n.*1410A>T
ENST00000578044.5:c.852A>T	ENSP00000464511.1:p.Gln284His
ENST00000578112.5:c.*859A>T	ENSP00000464501.1:n.*859A>T
ENST00000580419.5:c.957A>T	ENSP00000462475.1:p.Gln319His
NM_003079.4:c.1062A>T	NP_003070.3:p.Gln354His
NM_003079.5:c.1062A>T MANE Select	NP_003070.3:p.Gln354His