Canonical Allele Identifier: CA3432542
Gene: SIL1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.139026831C>T
GRCh37 chr5:g.138362520C>T
gnomAD v2:
5:138362520 C / T
gnomAD v3:
5:139026831 C / T
gnomAD v4:
chr5-139026831-C-T
Joint Max Group AF 0.00247025 (EAS)
Genomes Max Group AF 0.00148295 (EAS)
Exomes Max Group AF 0.00249002 (EAS)
ClinVar RCV:
RCV000319927
ClinVar Variation:
351083
dbSNP:
201553685
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139026831C>T , CM000667.2:g.139026831C>T GRCh38
NC_000005.9:g.138362520C>T , CM000667.1:g.138362520C>T GRCh37
NC_000005.8:g.138390419C>T NCBI36
NG_008112.1:g.176546G>A
NG_008112.2:g.176546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.615G>A MANE Select ENSP00000378294.2:p.Ala205=
ENST00000265195.9:c.615G>A ENSP00000265195.5:p.Ala205=
ENST00000394817.6:c.615G>A ENSP00000378294.2:p.Ala205=
ENST00000503732.1:n.442G>A
ENST00000505945.1:c.64-5539G>A ENSP00000425136.1:n.64-5539G>A
ENST00000509534.5:c.636G>A ENSP00000426858.1:p.Ala212=
NM_001037633.1:c.615G>A NP_001032722.1:p.Ala205=
NM_022464.4:c.615G>A NP_071909.1:p.Ala205=
XM_011543570.1:c.645G>A XP_011541872.1:p.Ala215=
XM_011543570.2:c.645G>A XP_011541872.1:p.Ala215=
XM_024446164.1:c.615G>A XP_024301932.1:p.Ala205=
NM_022464.5:c.615G>A MANE Select NP_071909.1:p.Ala205=
NM_001037633.2:c.615G>A NP_001032722.1:p.Ala205=
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