Canonical Allele Identifier: CA2675501380

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946797-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946797A>C , CM000667.2:g.138946797A>C	GRCh38
NC_000005.9:g.138282486A>C , CM000667.1:g.138282486A>C	GRCh37
NC_000005.8:g.138310385A>C	NCBI36
NG_008112.1:g.256580T>G
NG_008112.2:g.256580T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*320T>G MANE Select	ENSP00000378294.2:n.*320T>G
ENST00000265195.9:c.*320T>G	ENSP00000265195.5:n.*320T>G
ENST00000394817.6:c.*320T>G	ENSP00000378294.2:n.*320T>G
NM_001037633.1:c.*320T>G	NP_001032722.1:n.*320T>G
NM_022464.4:c.*320T>G	NP_071909.1:n.*320T>G
XM_011543570.2:c.*320T>G	XP_011541872.1:n.*320T>G
XM_024446164.1:c.*320T>G	XP_024301932.1:n.*320T>G
NM_022464.5:c.*320T>G MANE Select	NP_071909.1:n.*320T>G
NM_001037633.2:c.*320T>G	NP_001032722.1:n.*320T>G