Canonical Allele Identifier: CA128075
Community Standard Title: NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met)
Gene: CHRNB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454329C>A , CM000679.2:g.7454329C>A GRCh38
NC_000017.10:g.7357648C>A , CM000679.1:g.7357648C>A GRCh37
NC_000017.9:g.7298372C>A NCBI36
NG_008026.1:g.14243C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000747.3:c.853C>A MANE Select NP_000738.2:p.Leu285Met
ENST00000306071.7:c.853C>A MANE Select ENSP00000304290.2:p.Leu285Met
NM_000747.2:c.853C>A NP_000738.2:p.Leu285Met
ENST00000306071.6:c.853C>A ENSP00000304290.2:p.Leu285Met
ENST00000536404.6:c.637C>A ENSP00000439209.2:p.Leu213Met
ENST00000570557.5:c.516C>A
ENST00000573209.1:n.1797C>A
ENST00000576360.1:c.605-115C>A ENSP00000459092.1:n.605-115C>A
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