Canonical Allele Identifier: CA14646368

Gene: SPIB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50423308C>T , CM000681.2:g.50423308C>T	GRCh38
NC_000019.9:g.50926565C>T , CM000681.1:g.50926565C>T	GRCh37
NC_000019.8:g.55618377C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595883.6:c.339+271C>T MANE Select	ENSP00000471921.1:n.339+271C>T
ENST00000270632.7:c.339+271C>T	ENSP00000270632.7:n.339+271C>T
ENST00000439922.6:c.67-297C>T	ENSP00000391877.2:n.67-297C>T
ENST00000595883.5:c.339+271C>T	ENSP00000471921.1:n.339+271C>T
ENST00000596074.5:c.125-297C>T	ENSP00000470970.1:n.125-297C>T
ENST00000597855.5:c.339+271C>T	ENSP00000469023.1:n.339+271C>T
ENST00000599632.1:c.742+271C>T
NM_001243998.1:c.67-297C>T	NP_001230927.1:n.67-297C>T
NM_001243999.1:c.339+271C>T	NP_001230928.1:n.339+271C>T
NM_001244000.1:c.281+271C>T	NP_001230929.1:n.281+271C>T
NM_003121.4:c.339+271C>T	NP_003112.2:n.339+271C>T
NM_003121.5:c.339+271C>T MANE Select	NP_003112.2:n.339+271C>T
NM_001243999.2:c.339+271C>T	NP_001230928.1:n.339+271C>T
NM_001244000.2:c.281+271C>T	NP_001230929.2:n.281+271C>T
NM_001243998.2:c.67-297C>T	NP_001230927.1:n.67-297C>T