Canonical Allele Identifier: CA2333466568
Community Standard Title: NM_001037.5(SCN1B):c.82A= (p.Thr28=)
Gene: SCN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35032569A= , CM000681.2:g.35032569A= GRCh38
NC_000019.9:g.35523473A= , CM000681.1:g.35523473A= GRCh37
NC_000019.8:g.40215313A= NCBI36
NG_013359.1:g.6882A=

Transcript Alleles

HGVS Amino-acid Change
NM_001037.5:c.82A= MANE Select NP_001028.1:p.Thr28=
ENST00000262631.11:c.82A= MANE Select ENSP00000262631.3:p.Thr28=
NM_001037.4:c.82A= NP_001028.1:p.Thr28=
NM_001321605.1:c.-18A= NP_001308534.1:n.-18A=
NM_001321605.2:c.-18A= NP_001308534.1:n.-18A=
NM_199037.3:c.82A= NP_950238.1:p.Thr28=
NM_199037.4:c.82A= NP_950238.1:p.Thr28=
NM_199037.5:c.82A= NP_950238.1:p.Thr28=
ENST00000262631.9:c.82A= ENSP00000262631.3:p.Thr28=
ENST00000415950.3:c.82A= ENSP00000396915.2:p.Thr28=
ENST00000415950.4:c.82A= ENSP00000396915.2:p.Thr28=
ENST00000415950.5:c.82A= ENSP00000396915.2:p.Thr28=
ENST00000595652.5:c.82A= ENSP00000468848.1:p.Thr28=
ENST00000596348.1:n.91A=
ENST00000596348.2:c.-18A= ENSP00000492247.1:n.-18A=
ENST00000638536.1:c.82A= ENSP00000492022.1:p.Thr28=
ENST00000640135.1:c.-18A= ENSP00000492655.1:n.-18A=
ENST00000675741.1:c.-18A= ENSP00000502395.1:n.-18A=
ENST00000676410.1:c.-18A= ENSP00000502717.1:n.-18A=
XM_005259144.1:c.-18A= XP_005259201.1:n.-18A=