Canonical Allele Identifier: CA2657617293

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263555-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263555A>C , CM000664.2:g.263555A>C	GRCh38
NC_000002.11:g.263555A>C , CM000664.1:g.263555A>C	GRCh37
NC_000002.10:g.253555A>C	NCBI36
NG_012035.1:g.3687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+429T>G MANE Select	ENSP00000348471.5:n.1+429T>G
ENST00000356150.9:c.1+429T>G	ENSP00000348471.5:n.1+429T>G
ENST00000402632.5:c.-155-769T>G	ENSP00000384910.1:n.-155-769T>G
ENST00000403658.5:c.-422+1227T>G	ENSP00000383928.1:n.-422+1227T>G
ENST00000403712.6:c.1+429T>G	ENSP00000384276.1:n.1+429T>G
ENST00000405430.5:c.-281-183T>G	ENSP00000384269.1:n.-281-183T>G
ENST00000415368.5:c.-313-187T>G	ENSP00000410235.1:n.-313-187T>G
ENST00000454318.1:c.-362+1227T>G	ENSP00000415723.1:n.-362+1227T>G
ENST00000462719.1:n.105+2739T>G
ENST00000463865.5:n.309+529T>G
ENST00000465733.5:n.30-183T>G
ENST00000468321.5:n.42-769T>G
ENST00000471948.5:n.429T>G
ENST00000472861.1:n.30-183T>G
ENST00000475027.5:n.29+1227T>G
ENST00000477707.5:n.228+9T>G
ENST00000488044.5:n.85+1227T>G
ENST00000488979.6:n.27+987T>G
ENST00000626873.2:c.-556+589T>G	ENSP00000485824.1:n.-556+589T>G
NM_001159597.2:c.1+429T>G	NP_001153069.1:n.1+429T>G
NM_001282682.1:c.-422+1227T>G	NP_001269611.1:n.-422+1227T>G
NM_015677.3:c.1+429T>G	NP_056492.2:n.1+429T>G
NR_104223.1:n.42-769T>G
NR_104224.1:n.86-769T>G
NR_104225.1:n.309+529T>G
NM_015677.4:c.1+429T>G MANE Select	NP_056492.2:n.1+429T>G
NR_104224.2:n.44-769T>G
NM_001159597.3:c.1+429T>G	NP_001153069.1:n.1+429T>G
NM_001282682.2:c.-422+1227T>G	NP_001269611.1:n.-422+1227T>G
NR_104223.2:n.42-769T>G
NR_104224.3:n.44-769T>G