Canonical Allele Identifier: CA2637750142

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628650-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628650A>G , CM000679.2:g.40628650A>G	GRCh38
NC_000017.10:g.38784902A>G , CM000679.1:g.38784902A>G	GRCh37
NC_000017.9:g.36038428A>G	NCBI36
NG_032163.1:g.24202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*933T>C	ENSP00000466608.2:n.*933T>C
ENST00000348513.12:c.*135T>C MANE Select	ENSP00000323967.6:n.*135T>C
ENST00000377808.9:c.*358T>C	ENSP00000367039.4:n.*358T>C
ENST00000400122.8:c.*358T>C	ENSP00000411607.2:n.*358T>C
ENST00000469334.6:n.1969T>C
ENST00000578112.6:c.*1168T>C	ENSP00000464501.1:n.*1168T>C
ENST00000580419.6:c.*350T>C	ENSP00000462475.2:n.*350T>C
ENST00000642576.1:n.2514T>C
ENST00000643030.1:n.1994T>C
ENST00000643255.1:c.*3435T>C	ENSP00000493957.1:n.*3435T>C
ENST00000643318.1:c.*135T>C	ENSP00000494771.1:n.*135T>C
ENST00000643378.1:n.1926T>C
ENST00000643683.1:c.*135T>C	ENSP00000496094.1:n.*135T>C
ENST00000643893.1:n.1664T>C
ENST00000644443.1:n.3259T>C
ENST00000644523.1:n.1417T>C
ENST00000644527.1:c.*135T>C	ENSP00000493974.1:n.*135T>C
ENST00000644701.1:c.*358T>C	ENSP00000496097.1:n.*358T>C
ENST00000644909.1:c.*640T>C	ENSP00000493649.1:n.*640T>C
ENST00000645152.1:n.2034T>C
ENST00000645227.1:c.*1059T>C	ENSP00000495021.1:n.*1059T>C
ENST00000646242.1:n.7283T>C
ENST00000646283.1:c.*135T>C	ENSP00000494537.1:n.*135T>C
ENST00000646401.1:n.2737T>C
ENST00000646856.1:c.*1247T>C	ENSP00000494505.1:n.*1247T>C
ENST00000647294.1:c.*1301T>C	ENSP00000494815.1:n.*1301T>C
ENST00000647508.1:c.*135T>C	ENSP00000496445.1:n.*135T>C
ENST00000647515.1:c.*902T>C	ENSP00000495857.1:n.*902T>C
ENST00000348513.10:c.*135T>C	ENSP00000323967.6:n.*135T>C
ENST00000431889.6:c.*135T>C	ENSP00000445370.1:n.*135T>C
ENST00000469334.5:n.1958T>C
ENST00000578112.5:c.*1168T>C	ENSP00000464501.1:n.*1168T>C
NM_003079.4:c.*135T>C	NP_003070.3:n.*135T>C
NM_003079.5:c.*135T>C MANE Select	NP_003070.3:n.*135T>C