Canonical Allele Identifier: CA361136428

Gene: SIL1

Linked Data

• ClinVar Variation Id: 2689990
• ClinVar RCV Id: RCV003486247
• MyVariant Identifiers: chr5:g.138282862C>A (hg19) ; chr5:g.138947173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947173C>A , CM000667.2:g.138947173C>A	GRCh38
NC_000005.9:g.138282862C>A , CM000667.1:g.138282862C>A	GRCh37
NC_000005.8:g.138310761C>A	NCBI36
NG_008112.1:g.256204G>T
NG_008112.2:g.256204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1330G>T MANE Select	ENSP00000378294.2:p.Gly444Cys
ENST00000265195.9:c.1330G>T	ENSP00000265195.5:p.Gly444Cys
ENST00000394817.6:c.1330G>T	ENSP00000378294.2:p.Gly444Cys
ENST00000509534.5:c.1351G>T	ENSP00000426858.1:p.Gly451Cys
ENST00000515008.1:n.665G>T
NM_001037633.1:c.1330G>T	NP_001032722.1:p.Gly444Cys
NM_022464.4:c.1330G>T	NP_071909.1:p.Gly444Cys
XM_011543570.1:c.1360G>T	XP_011541872.1:p.Gly454Cys
XM_011543570.2:c.1360G>T	XP_011541872.1:p.Gly454Cys
XM_024446164.1:c.1330G>T	XP_024301932.1:p.Gly444Cys
NM_022464.5:c.1330G>T MANE Select	NP_071909.1:p.Gly444Cys
NM_001037633.2:c.1330G>T	NP_001032722.1:p.Gly444Cys