Canonical Allele Identifier: CA1586100238

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947249G= , CM000667.2:g.138947249G=	GRCh38
NC_000005.9:g.138282938G= , CM000667.1:g.138282938G=	GRCh37
NC_000005.8:g.138310837G=	NCBI36
NG_008112.1:g.256128C=
NG_008112.2:g.256128C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1254C= MANE Select	ENSP00000378294.2:p.Leu418=
ENST00000265195.9:c.1254C=	ENSP00000265195.5:p.Leu418=
ENST00000394817.6:c.1254C=	ENSP00000378294.2:p.Leu418=
ENST00000509534.5:c.1275C=	ENSP00000426858.1:p.Leu425=
ENST00000515008.1:n.589C=
NM_001037633.1:c.1254C=	NP_001032722.1:p.Leu418=
NM_022464.4:c.1254C=	NP_071909.1:p.Leu418=
XM_011543570.1:c.1284C=	XP_011541872.1:p.Leu428=
XM_011543570.2:c.1284C=	XP_011541872.1:p.Leu428=
XM_024446164.1:c.1254C=	XP_024301932.1:p.Leu418=
NM_022464.5:c.1254C= MANE Select	NP_071909.1:p.Leu418=
NM_001037633.2:c.1254C=	NP_001032722.1:p.Leu418=