Canonical Allele Identifier: CA2657617001

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263343-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263343G>A , CM000664.2:g.263343G>A	GRCh38
NC_000002.11:g.263343G>A , CM000664.1:g.263343G>A	GRCh37
NC_000002.10:g.253343G>A	NCBI36
NG_012035.1:g.3475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+641C>T MANE Select	ENSP00000348471.5:n.1+641C>T
ENST00000356150.9:c.1+641C>T	ENSP00000348471.5:n.1+641C>T
ENST00000402632.5:c.-155-557C>T	ENSP00000384910.1:n.-155-557C>T
ENST00000403658.5:c.-422+1439C>T	ENSP00000383928.1:n.-422+1439C>T
ENST00000403712.6:c.1+641C>T	ENSP00000384276.1:n.1+641C>T
ENST00000405430.5:c.-252C>T	ENSP00000384269.1:n.-252C>T
ENST00000415368.5:c.-288C>T	ENSP00000410235.1:n.-288C>T
ENST00000454318.1:c.-362+1439C>T	ENSP00000415723.1:n.-362+1439C>T
ENST00000462719.1:n.106-2623C>T
ENST00000463865.5:n.309+741C>T
ENST00000465733.5:n.59C>T
ENST00000468321.5:n.42-557C>T
ENST00000471948.5:n.641C>T
ENST00000472861.1:n.59C>T
ENST00000475027.5:n.29+1439C>T
ENST00000477707.5:n.258C>T
ENST00000488044.5:n.85+1439C>T
ENST00000488979.6:n.27+1199C>T
ENST00000626873.2:c.-556+801C>T	ENSP00000485824.1:n.-556+801C>T
NM_001159597.2:c.1+641C>T	NP_001153069.1:n.1+641C>T
NM_001282682.1:c.-422+1439C>T	NP_001269611.1:n.-422+1439C>T
NM_015677.3:c.1+641C>T	NP_056492.2:n.1+641C>T
NR_104223.1:n.42-557C>T
NR_104224.1:n.86-557C>T
NR_104225.1:n.309+741C>T
NM_015677.4:c.1+641C>T MANE Select	NP_056492.2:n.1+641C>T
NR_104224.2:n.44-557C>T
NM_001159597.3:c.1+641C>T	NP_001153069.1:n.1+641C>T
NM_001282682.2:c.-422+1439C>T	NP_001269611.1:n.-422+1439C>T
NR_104223.2:n.42-557C>T
NR_104224.3:n.44-557C>T