Canonical Allele Identifier: CA2675501635

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947046-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947046T>G , CM000667.2:g.138947046T>G	GRCh38
NC_000005.9:g.138282735T>G , CM000667.1:g.138282735T>G	GRCh37
NC_000005.8:g.138310634T>G	NCBI36
NG_008112.1:g.256331A>C
NG_008112.2:g.256331A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.*71A>C MANE Select	ENSP00000378294.2:n.*71A>C
ENST00000265195.9:c.*71A>C	ENSP00000265195.5:n.*71A>C
ENST00000394817.6:c.*71A>C	ENSP00000378294.2:n.*71A>C
ENST00000509534.5:c.*71A>C	ENSP00000426858.1:n.*71A>C
ENST00000515008.1:n.792A>C
NM_001037633.1:c.*71A>C	NP_001032722.1:n.*71A>C
NM_022464.4:c.*71A>C	NP_071909.1:n.*71A>C
XM_011543570.1:c.*71A>C	XP_011541872.1:n.*71A>C
XM_011543570.2:c.*71A>C	XP_011541872.1:n.*71A>C
XM_024446164.1:c.*71A>C	XP_024301932.1:n.*71A>C
NM_022464.5:c.*71A>C MANE Select	NP_071909.1:n.*71A>C
NM_001037633.2:c.*71A>C	NP_001032722.1:n.*71A>C