Canonical Allele Identifier: CA2580582132
Community Standard Title: NM_003121.5(SPIB):c.340-120A>T
Gene: SPIB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50423485A>T , CM000681.2:g.50423485A>T GRCh38
NC_000019.9:g.50926742A>T , CM000681.1:g.50926742A>T GRCh37
NC_000019.8:g.55618554A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003121.5:c.340-120A>T MANE Select NP_003112.2:n.340-120A>T
ENST00000595883.6:c.340-120A>T MANE Select ENSP00000471921.1:n.340-120A>T
NM_001243998.1:c.67-120A>T NP_001230927.1:n.67-120A>T
NM_001243998.2:c.67-120A>T NP_001230927.1:n.67-120A>T
NM_001243999.1:c.340-120A>T NP_001230928.1:n.340-120A>T
NM_001243999.2:c.340-120A>T NP_001230928.1:n.340-120A>T
NM_001244000.1:c.282-155A>T NP_001230929.1:n.282-155A>T
NM_001244000.2:c.282-155A>T NP_001230929.2:n.282-155A>T
NM_003121.4:c.340-120A>T NP_003112.2:n.340-120A>T
ENST00000270632.7:c.340-120A>T ENSP00000270632.7:n.340-120A>T
ENST00000439922.6:c.67-120A>T ENSP00000391877.2:n.67-120A>T
ENST00000595883.5:c.340-120A>T ENSP00000471921.1:n.340-120A>T
ENST00000596074.5:c.125-120A>T ENSP00000470970.1:n.125-120A>T
ENST00000597855.5:c.340-155A>T ENSP00000469023.1:n.340-155A>T
ENST00000599632.1:c.743-120A>T