Canonical Allele Identifier: CA499962629

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785052A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628800A>G , CM000679.2:g.40628800A>G	GRCh38
NC_000017.10:g.38785052A>G , CM000679.1:g.38785052A>G	GRCh37
NC_000017.9:g.36038578A>G	NCBI36
NG_032163.1:g.24052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*783T>C	ENSP00000466608.2:n.*783T>C
ENST00000348513.12:c.1221T>C MANE Select	ENSP00000323967.6:p.Asp407=
ENST00000377808.9:c.*208T>C	ENSP00000367039.4:n.*208T>C
ENST00000400122.8:c.*208T>C	ENSP00000411607.2:n.*208T>C
ENST00000469334.6:n.1819T>C
ENST00000578044.6:c.1011T>C	ENSP00000464511.1:p.Asp337=
ENST00000578112.6:c.*1018T>C	ENSP00000464501.1:n.*1018T>C
ENST00000580419.6:c.*200T>C	ENSP00000462475.2:n.*200T>C
ENST00000642576.1:n.2364T>C
ENST00000643030.1:n.1844T>C
ENST00000643255.1:c.*3285T>C	ENSP00000493957.1:n.*3285T>C
ENST00000643318.1:c.1011T>C	ENSP00000494771.1:p.Asp337=
ENST00000643378.1:n.1776T>C
ENST00000643683.1:c.1221T>C	ENSP00000496094.1:p.Asp407=
ENST00000643893.1:n.1514T>C
ENST00000644443.1:n.3109T>C
ENST00000644523.1:n.1267T>C
ENST00000644527.1:c.993T>C	ENSP00000493974.1:p.Asp331=
ENST00000644701.1:c.*208T>C	ENSP00000496097.1:n.*208T>C
ENST00000644909.1:c.*490T>C	ENSP00000493649.1:n.*490T>C
ENST00000645152.1:n.1884T>C
ENST00000645227.1:c.*909T>C	ENSP00000495021.1:n.*909T>C
ENST00000646242.1:n.7133T>C
ENST00000646283.1:c.1029T>C	ENSP00000494537.1:p.Asp343=
ENST00000646401.1:n.2587T>C
ENST00000646448.1:n.2495T>C
ENST00000646856.1:c.*1097T>C	ENSP00000494505.1:n.*1097T>C
ENST00000647294.1:c.*1151T>C	ENSP00000494815.1:n.*1151T>C
ENST00000647508.1:c.1116T>C	ENSP00000496445.1:p.Asp372=
ENST00000647515.1:c.*752T>C	ENSP00000495857.1:n.*752T>C
ENST00000348513.10:c.1221T>C	ENSP00000323967.6:p.Asp407=
ENST00000377808.8:c.*208T>C	ENSP00000367039.4:n.*208T>C
ENST00000400122.7:c.*208T>C	ENSP00000411607.2:n.*208T>C
ENST00000431889.6:c.1167T>C	ENSP00000445370.1:p.Asp389=
ENST00000469334.5:n.1808T>C
ENST00000476049.1:c.*1569T>C	ENSP00000463483.1:n.*1569T>C
ENST00000578044.5:c.1011T>C	ENSP00000464511.1:p.Asp337=
ENST00000578112.5:c.*1018T>C	ENSP00000464501.1:n.*1018T>C
ENST00000580419.5:c.1116T>C	ENSP00000462475.1:p.Asp372=
NM_003079.4:c.1221T>C	NP_003070.3:p.Asp407=
NM_003079.5:c.1221T>C MANE Select	NP_003070.3:p.Asp407=