Canonical Allele Identifier: CA446793245

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947192-C-A
• MyVariant Identifiers: chr5:g.138282881C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947192C>A , CM000667.2:g.138947192C>A	GRCh38
NC_000005.9:g.138282881C>A , CM000667.1:g.138282881C>A	GRCh37
NC_000005.8:g.138310780C>A	NCBI36
NG_008112.1:g.256185G>T
NG_008112.2:g.256185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1311G>T MANE Select	ENSP00000378294.2:p.Leu437=
ENST00000265195.9:c.1311G>T	ENSP00000265195.5:p.Leu437=
ENST00000394817.6:c.1311G>T	ENSP00000378294.2:p.Leu437=
ENST00000509534.5:c.1332G>T	ENSP00000426858.1:p.Leu444=
ENST00000515008.1:n.646G>T
NM_001037633.1:c.1311G>T	NP_001032722.1:p.Leu437=
NM_022464.4:c.1311G>T	NP_071909.1:p.Leu437=
XM_011543570.1:c.1341G>T	XP_011541872.1:p.Leu447=
XM_011543570.2:c.1341G>T	XP_011541872.1:p.Leu447=
XM_024446164.1:c.1311G>T	XP_024301932.1:p.Leu437=
NM_022464.5:c.1311G>T MANE Select	NP_071909.1:p.Leu437=
NM_001037633.2:c.1311G>T	NP_001032722.1:p.Leu437=