Canonical Allele Identifier: CA399360707

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785045T>A (hg19) ; chr17:g.40628793T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628793T>A , CM000679.2:g.40628793T>A	GRCh38
NC_000017.10:g.38785045T>A , CM000679.1:g.38785045T>A	GRCh37
NC_000017.9:g.36038571T>A	NCBI36
NG_032163.1:g.24059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*790A>T	ENSP00000466608.2:n.*790A>T
ENST00000348513.12:c.1228A>T MANE Select	ENSP00000323967.6:p.Lys410Ter
ENST00000377808.9:c.*215A>T	ENSP00000367039.4:n.*215A>T
ENST00000400122.8:c.*215A>T	ENSP00000411607.2:n.*215A>T
ENST00000469334.6:n.1826A>T
ENST00000578044.6:c.1018A>T	ENSP00000464511.1:p.Lys340Ter
ENST00000578112.6:c.*1025A>T	ENSP00000464501.1:n.*1025A>T
ENST00000580419.6:c.*207A>T	ENSP00000462475.2:n.*207A>T
ENST00000642576.1:n.2371A>T
ENST00000643030.1:n.1851A>T
ENST00000643255.1:c.*3292A>T	ENSP00000493957.1:n.*3292A>T
ENST00000643318.1:c.1018A>T	ENSP00000494771.1:p.Lys340Ter
ENST00000643378.1:n.1783A>T
ENST00000643683.1:c.1228A>T	ENSP00000496094.1:p.Lys410Ter
ENST00000643893.1:n.1521A>T
ENST00000644443.1:n.3116A>T
ENST00000644523.1:n.1274A>T
ENST00000644527.1:c.1000A>T	ENSP00000493974.1:p.Lys334Ter
ENST00000644701.1:c.*215A>T	ENSP00000496097.1:n.*215A>T
ENST00000644909.1:c.*497A>T	ENSP00000493649.1:n.*497A>T
ENST00000645152.1:n.1891A>T
ENST00000645227.1:c.*916A>T	ENSP00000495021.1:n.*916A>T
ENST00000646242.1:n.7140A>T
ENST00000646283.1:c.1036A>T	ENSP00000494537.1:p.Lys346Ter
ENST00000646401.1:n.2594A>T
ENST00000646448.1:n.2502A>T
ENST00000646856.1:c.*1104A>T	ENSP00000494505.1:n.*1104A>T
ENST00000647294.1:c.*1158A>T	ENSP00000494815.1:n.*1158A>T
ENST00000647508.1:c.1123A>T	ENSP00000496445.1:p.Lys375Ter
ENST00000647515.1:c.*759A>T	ENSP00000495857.1:n.*759A>T
ENST00000348513.10:c.1228A>T	ENSP00000323967.6:p.Lys410Ter
ENST00000377808.8:c.*215A>T	ENSP00000367039.4:n.*215A>T
ENST00000400122.7:c.*215A>T	ENSP00000411607.2:n.*215A>T
ENST00000431889.6:c.1174A>T	ENSP00000445370.1:p.Lys392Ter
ENST00000469334.5:n.1815A>T
ENST00000578044.5:c.1018A>T	ENSP00000464511.1:p.Lys340Ter
ENST00000578112.5:c.*1025A>T	ENSP00000464501.1:n.*1025A>T
ENST00000580419.5:c.1123A>T	ENSP00000462475.1:p.Lys375Ter
NM_003079.4:c.1228A>T	NP_003070.3:p.Lys410Ter
NM_003079.5:c.1228A>T MANE Select	NP_003070.3:p.Lys410Ter