Canonical Allele Identifier: CA446793523

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947291-G-C
• MyVariant Identifiers: chr5:g.138282980G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947291G>C , CM000667.2:g.138947291G>C	GRCh38
NC_000005.9:g.138282980G>C , CM000667.1:g.138282980G>C	GRCh37
NC_000005.8:g.138310879G>C	NCBI36
NG_008112.1:g.256086C>G
NG_008112.2:g.256086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1212C>G MANE Select	ENSP00000378294.2:p.Leu404=
ENST00000265195.9:c.1212C>G	ENSP00000265195.5:p.Leu404=
ENST00000394817.6:c.1212C>G	ENSP00000378294.2:p.Leu404=
ENST00000509534.5:c.1233C>G	ENSP00000426858.1:p.Leu411=
ENST00000515008.1:n.547C>G
NM_001037633.1:c.1212C>G	NP_001032722.1:p.Leu404=
NM_022464.4:c.1212C>G	NP_071909.1:p.Leu404=
XM_011543570.1:c.1242C>G	XP_011541872.1:p.Leu414=
XM_011543570.2:c.1242C>G	XP_011541872.1:p.Leu414=
XM_024446164.1:c.1212C>G	XP_024301932.1:p.Leu404=
NM_022464.5:c.1212C>G MANE Select	NP_071909.1:p.Leu404=
NM_001037633.2:c.1212C>G	NP_001032722.1:p.Leu404=