Canonical Allele Identifier: CA1266876893
Gene: SFTPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663398A= , CM000664.2:g.85663398A= GRCh38
NC_000002.11:g.85890521A= , CM000664.1:g.85890521A= GRCh37
NC_000002.10:g.85744032A= NCBI36
NG_016967.1:g.10344T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.950T= ENSP00000386346.2:p.Ile317=
ENST00000519937.7:c.950T= MANE Select ENSP00000428719.2:p.Ile317=
ENST00000393822.7:c.950T= ENSP00000377409.4:p.Ile317=
ENST00000409383.5:c.986T= ENSP00000386346.1:p.Ile329=
ENST00000428225.5:c.927T=
ENST00000491167.1:n.150T=
ENST00000494165.1:c.81T=
ENST00000519937.6:c.950T= ENSP00000428719.2:p.Ile317=
NM_000542.3:c.986T= NP_000533.3:p.Ile329=
NM_198843.2:c.986T= NP_942140.2:p.Ile329=
XM_005264487.2:c.986T= XP_005264544.1:p.Ile329=
XM_005264488.2:c.938T= XP_005264545.2:p.Ile313=
XM_005264490.3:c.950T= XP_005264547.2:p.Ile317=
XM_005264488.4:c.938T= XP_005264545.2:p.Ile313=
XM_005264490.4:c.950T= XP_005264547.2:p.Ile317=
NM_000542.4:c.950T= NP_000533.4:p.Ile317=
NM_001367281.1:c.950T= NP_001354210.1:p.Ile317=
NM_198843.3:c.950T= NP_942140.3:p.Ile317=
NM_000542.5:c.950T= MANE Select NP_000533.4:p.Ile317=