Canonical Allele Identifier: CA3432590

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139042643T>C , CM000667.2:g.139042643T>C	GRCh38
NC_000005.9:g.138378332T>C , CM000667.1:g.138378332T>C	GRCh37
NC_000005.8:g.138406231T>C	NCBI36
NG_008112.1:g.160734A>G
NG_008112.2:g.160734A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022464.5:c.430A>G MANE Select	NP_071909.1:p.Met144Val
ENST00000394817.7:c.430A>G MANE Select	ENSP00000378294.2:p.Met144Val
NM_001037633.1:c.430A>G	NP_001032722.1:p.Met144Val
NM_001037633.2:c.430A>G	NP_001032722.1:p.Met144Val
NM_022464.4:c.430A>G	NP_071909.1:p.Met144Val
ENST00000265195.9:c.430A>G	ENSP00000265195.5:p.Met144Val
ENST00000394817.6:c.430A>G	ENSP00000378294.2:p.Met144Val
ENST00000503732.1:n.257A>G
ENST00000505945.1:c.40A>G	ENSP00000425136.1:p.Met14Val
ENST00000508639.5:c.430A>G	ENSP00000427371.1:p.Met144Val
ENST00000509534.5:c.451A>G	ENSP00000426858.1:p.Met151Val
XM_011543570.1:c.460A>G	XP_011541872.1:p.Met154Val
XM_011543570.2:c.460A>G	XP_011541872.1:p.Met154Val
XM_024446164.1:c.430A>G	XP_024301932.1:p.Met144Val