Canonical Allele Identifier: CA406993381

Gene: SPIB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50428175C>A , CM000681.2:g.50428175C>A	GRCh38
NC_000019.9:g.50931432C>A , CM000681.1:g.50931432C>A	GRCh37
NC_000019.8:g.55623244C>A	NCBI36
NG_028026.1:g.273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595883.6:c.628C>A MANE Select	ENSP00000471921.1:p.Arg210Ser
ENST00000270632.7:c.*90C>A	ENSP00000270632.7:n.*90C>A
ENST00000439922.6:c.355C>A	ENSP00000391877.2:p.Arg119Ser
ENST00000595883.5:c.628C>A	ENSP00000471921.1:p.Arg210Ser
ENST00000596074.5:c.*179C>A	ENSP00000470970.1:n.*179C>A
ENST00000599632.1:c.1031C>A
NM_001243998.1:c.355C>A	NP_001230927.1:p.Arg119Ser
NM_001243999.1:c.*90C>A	NP_001230928.1:n.*90C>A
NM_001244000.1:c.535C>A	NP_001230929.1:p.Arg179Ser
NM_003121.4:c.628C>A	NP_003112.2:p.Arg210Ser
NM_003121.5:c.628C>A MANE Select	NP_003112.2:p.Arg210Ser
NM_001243999.2:c.*90C>A	NP_001230928.1:n.*90C>A
NM_001244000.2:c.535C>A	NP_001230929.2:p.Arg179Ser
NM_001243998.2:c.355C>A	NP_001230927.1:p.Arg119Ser