Canonical Allele Identifier: CA767229450
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1231561579

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263391C>G , CM000664.2:g.263391C>G GRCh38
NC_000002.11:g.263391C>G , CM000664.1:g.263391C>G GRCh37
NC_000002.10:g.253391C>G NCBI36
NG_012035.1:g.3523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+593G>C MANE Select ENSP00000348471.5:n.1+593G>C
ENST00000356150.9:c.1+593G>C ENSP00000348471.5:n.1+593G>C
ENST00000402632.5:c.-155-605G>C ENSP00000384910.1:n.-155-605G>C
ENST00000403658.5:c.-422+1391G>C ENSP00000383928.1:n.-422+1391G>C
ENST00000403712.6:c.1+593G>C ENSP00000384276.1:n.1+593G>C
ENST00000405430.5:c.-281-19G>C ENSP00000384269.1:n.-281-19G>C
ENST00000415368.5:c.-313-23G>C ENSP00000410235.1:n.-313-23G>C
ENST00000454318.1:c.-362+1391G>C ENSP00000415723.1:n.-362+1391G>C
ENST00000462719.1:n.106-2671G>C
ENST00000463865.5:n.309+693G>C
ENST00000465733.5:n.30-19G>C
ENST00000468321.5:n.42-605G>C
ENST00000471948.5:n.593G>C
ENST00000472861.1:n.30-19G>C
ENST00000475027.5:n.29+1391G>C
ENST00000477707.5:n.229-19G>C
ENST00000488044.5:n.85+1391G>C
ENST00000488979.6:n.27+1151G>C
ENST00000626873.2:c.-556+753G>C ENSP00000485824.1:n.-556+753G>C
NM_001159597.2:c.1+593G>C NP_001153069.1:n.1+593G>C
NM_001282682.1:c.-422+1391G>C NP_001269611.1:n.-422+1391G>C
NM_015677.3:c.1+593G>C NP_056492.2:n.1+593G>C
NR_104223.1:n.42-605G>C
NR_104224.1:n.86-605G>C
NR_104225.1:n.309+693G>C
NM_015677.4:c.1+593G>C MANE Select NP_056492.2:n.1+593G>C
NR_104224.2:n.44-605G>C
NM_001159597.3:c.1+593G>C NP_001153069.1:n.1+593G>C
NM_001282682.2:c.-422+1391G>C NP_001269611.1:n.-422+1391G>C
NR_104223.2:n.42-605G>C
NR_104224.3:n.44-605G>C