Canonical Allele Identifier: CA361136502

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947206-C-G
• MyVariant Identifiers: chr5:g.138282895C>G (hg19) ; chr5:g.138947206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947206C>G , CM000667.2:g.138947206C>G	GRCh38
NC_000005.9:g.138282895C>G , CM000667.1:g.138282895C>G	GRCh37
NC_000005.8:g.138310794C>G	NCBI36
NG_008112.1:g.256171G>C
NG_008112.2:g.256171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1297G>C MANE Select	ENSP00000378294.2:p.Ala433Pro
ENST00000265195.9:c.1297G>C	ENSP00000265195.5:p.Ala433Pro
ENST00000394817.6:c.1297G>C	ENSP00000378294.2:p.Ala433Pro
ENST00000509534.5:c.1318G>C	ENSP00000426858.1:p.Ala440Pro
ENST00000515008.1:n.632G>C
NM_001037633.1:c.1297G>C	NP_001032722.1:p.Ala433Pro
NM_022464.4:c.1297G>C	NP_071909.1:p.Ala433Pro
XM_011543570.1:c.1327G>C	XP_011541872.1:p.Ala443Pro
XM_011543570.2:c.1327G>C	XP_011541872.1:p.Ala443Pro
XM_024446164.1:c.1297G>C	XP_024301932.1:p.Ala433Pro
NM_022464.5:c.1297G>C MANE Select	NP_071909.1:p.Ala433Pro
NM_001037633.2:c.1297G>C	NP_001032722.1:p.Ala433Pro