Canonical Allele Identifier: CA2578421560

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139050878A>T , CM000667.2:g.139050878A>T	GRCh38
NC_000005.9:g.138386567A>T , CM000667.1:g.138386567A>T	GRCh37
NC_000005.8:g.138414466A>T	NCBI36
NG_008112.1:g.152499T>A
NG_008112.2:g.152499T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394817.7:c.353+60T>A MANE Select	ENSP00000378294.2:n.353+60T>A
ENST00000265195.9:c.353+60T>A	ENSP00000265195.5:n.353+60T>A
ENST00000394817.6:c.353+60T>A	ENSP00000378294.2:n.353+60T>A
ENST00000503732.1:n.180+60T>A
ENST00000508639.5:c.353+60T>A	ENSP00000427371.1:n.353+60T>A
ENST00000509534.5:c.374+60T>A	ENSP00000426858.1:n.374+60T>A
ENST00000513453.5:c.353+60T>A	ENSP00000424014.1:n.353+60T>A
NM_001037633.1:c.353+60T>A	NP_001032722.1:n.353+60T>A
NM_022464.4:c.353+60T>A	NP_071909.1:n.353+60T>A
XM_011543570.1:c.383+60T>A	XP_011541872.1:n.383+60T>A
XM_011543570.2:c.383+60T>A	XP_011541872.1:n.383+60T>A
XM_024446164.1:c.353+60T>A	XP_024301932.1:n.353+60T>A
NM_022464.5:c.353+60T>A MANE Select	NP_071909.1:n.353+60T>A
NM_001037633.2:c.353+60T>A	NP_001032722.1:n.353+60T>A