Canonical Allele Identifier: CA2657617005
Gene: SH3YL1 HGNC NCBI

Linked Data

gnomAD v4: 2-263347-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263347A>G , CM000664.2:g.263347A>G GRCh38
NC_000002.11:g.263347A>G , CM000664.1:g.263347A>G GRCh37
NC_000002.10:g.253347A>G NCBI36
NG_012035.1:g.3479A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+637T>C MANE Select ENSP00000348471.5:n.1+637T>C
ENST00000356150.9:c.1+637T>C ENSP00000348471.5:n.1+637T>C
ENST00000402632.5:c.-155-561T>C ENSP00000384910.1:n.-155-561T>C
ENST00000403658.5:c.-422+1435T>C ENSP00000383928.1:n.-422+1435T>C
ENST00000403712.6:c.1+637T>C ENSP00000384276.1:n.1+637T>C
ENST00000405430.5:c.-256T>C ENSP00000384269.1:n.-256T>C
ENST00000415368.5:c.-292T>C ENSP00000410235.1:n.-292T>C
ENST00000454318.1:c.-362+1435T>C ENSP00000415723.1:n.-362+1435T>C
ENST00000462719.1:n.106-2627T>C
ENST00000463865.5:n.309+737T>C
ENST00000465733.5:n.55T>C
ENST00000468321.5:n.42-561T>C
ENST00000471948.5:n.637T>C
ENST00000472861.1:n.55T>C
ENST00000475027.5:n.29+1435T>C
ENST00000477707.5:n.254T>C
ENST00000488044.5:n.85+1435T>C
ENST00000488979.6:n.27+1195T>C
ENST00000626873.2:c.-556+797T>C ENSP00000485824.1:n.-556+797T>C
NM_001159597.2:c.1+637T>C NP_001153069.1:n.1+637T>C
NM_001282682.1:c.-422+1435T>C NP_001269611.1:n.-422+1435T>C
NM_015677.3:c.1+637T>C NP_056492.2:n.1+637T>C
NR_104223.1:n.42-561T>C
NR_104224.1:n.86-561T>C
NR_104225.1:n.309+737T>C
NM_015677.4:c.1+637T>C MANE Select NP_056492.2:n.1+637T>C
NR_104224.2:n.44-561T>C
NM_001159597.3:c.1+637T>C NP_001153069.1:n.1+637T>C
NM_001282682.2:c.-422+1435T>C NP_001269611.1:n.-422+1435T>C
NR_104223.2:n.42-561T>C
NR_104224.3:n.44-561T>C