Canonical Allele Identifier: CA2675501592

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946996-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946996C>T , CM000667.2:g.138946996C>T	GRCh38
NC_000005.9:g.138282685C>T , CM000667.1:g.138282685C>T	GRCh37
NC_000005.8:g.138310584C>T	NCBI36
NG_008112.1:g.256381G>A
NG_008112.2:g.256381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*121G>A MANE Select	ENSP00000378294.2:n.*121G>A
ENST00000265195.9:c.*121G>A	ENSP00000265195.5:n.*121G>A
ENST00000394817.6:c.*121G>A	ENSP00000378294.2:n.*121G>A
ENST00000515008.1:n.842G>A
NM_001037633.1:c.*121G>A	NP_001032722.1:n.*121G>A
NM_022464.4:c.*121G>A	NP_071909.1:n.*121G>A
XM_011543570.1:c.*121G>A	XP_011541872.1:n.*121G>A
XM_011543570.2:c.*121G>A	XP_011541872.1:n.*121G>A
XM_024446164.1:c.*121G>A	XP_024301932.1:n.*121G>A
NM_022464.5:c.*121G>A MANE Select	NP_071909.1:n.*121G>A
NM_001037633.2:c.*121G>A	NP_001032722.1:n.*121G>A