Canonical Allele Identifier: CA41304506

Gene: SH3YL1

Linked Data

• dbSNP Id: rs182240058
• gnomAD v4: 2-263326-C-A
• MyVariant Identifiers: chr2:g.263326C>A (hg19) ; chr2:g.263326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263326C>A , CM000664.2:g.263326C>A	GRCh38
NC_000002.11:g.263326C>A , CM000664.1:g.263326C>A	GRCh37
NC_000002.10:g.253326C>A	NCBI36
NG_012035.1:g.3458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+658G>T MANE Select	ENSP00000348471.5:n.1+658G>T
ENST00000356150.9:c.1+658G>T	ENSP00000348471.5:n.1+658G>T
ENST00000402632.5:c.-155-540G>T	ENSP00000384910.1:n.-155-540G>T
ENST00000403658.5:c.-422+1456G>T	ENSP00000383928.1:n.-422+1456G>T
ENST00000403712.6:c.1+658G>T	ENSP00000384276.1:n.1+658G>T
ENST00000405430.5:c.-235G>T	ENSP00000384269.1:n.-235G>T
ENST00000415368.5:c.-271G>T	ENSP00000410235.1:n.-271G>T
ENST00000454318.1:c.-362+1456G>T	ENSP00000415723.1:n.-362+1456G>T
ENST00000462719.1:n.106-2606G>T
ENST00000463865.5:n.309+758G>T
ENST00000465733.5:n.76G>T
ENST00000468321.5:n.42-540G>T
ENST00000471948.5:n.658G>T
ENST00000472861.1:n.76G>T
ENST00000475027.5:n.29+1456G>T
ENST00000477707.5:n.275G>T
ENST00000488044.5:n.85+1456G>T
ENST00000488979.6:n.27+1216G>T
ENST00000626873.2:c.-556+818G>T	ENSP00000485824.1:n.-556+818G>T
NM_001159597.2:c.1+658G>T	NP_001153069.1:n.1+658G>T
NM_001282682.1:c.-422+1456G>T	NP_001269611.1:n.-422+1456G>T
NM_015677.3:c.1+658G>T	NP_056492.2:n.1+658G>T
NR_104223.1:n.42-540G>T
NR_104224.1:n.86-540G>T
NR_104225.1:n.309+758G>T
NM_015677.4:c.1+658G>T MANE Select	NP_056492.2:n.1+658G>T
NR_104224.2:n.44-540G>T
NM_001159597.3:c.1+658G>T	NP_001153069.1:n.1+658G>T
NM_001282682.2:c.-422+1456G>T	NP_001269611.1:n.-422+1456G>T
NR_104223.2:n.42-540G>T
NR_104224.3:n.44-540G>T