Canonical Allele Identifier: CA1744087

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85666649G>C , CM000664.2:g.85666649G>C	GRCh38
NC_000002.11:g.85893772G>C , CM000664.1:g.85893772G>C	GRCh37
NC_000002.10:g.85747283G>C	NCBI36
NG_016967.1:g.7093C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000542.5:c.361C>G MANE Select	NP_000533.4:p.Pro121Ala
ENST00000519937.7:c.361C>G MANE Select	ENSP00000428719.2:p.Pro121Ala
NM_000542.3:c.397C>G	NP_000533.3:p.Pro133Ala
NM_000542.4:c.361C>G	NP_000533.4:p.Pro121Ala
NM_001367281.1:c.361C>G	NP_001354210.1:p.Pro121Ala
NM_198843.2:c.397C>G	NP_942140.2:p.Pro133Ala
NM_198843.3:c.361C>G	NP_942140.3:p.Pro121Ala
ENST00000393822.7:c.361C>G	ENSP00000377409.4:p.Pro121Ala
ENST00000409383.5:c.397C>G	ENSP00000386346.1:p.Pro133Ala
ENST00000409383.6:c.361C>G	ENSP00000386346.2:p.Pro121Ala
ENST00000428225.5:c.350C>G
ENST00000473692.1:n.367C>G
ENST00000519937.6:c.361C>G	ENSP00000428719.2:p.Pro121Ala
XM_005264487.2:c.397C>G	XP_005264544.1:p.Pro133Ala
XM_005264488.2:c.361C>G	XP_005264545.2:p.Pro121Ala
XM_005264488.4:c.361C>G	XP_005264545.2:p.Pro121Ala
XM_005264490.3:c.361C>G	XP_005264547.2:p.Pro121Ala
XM_005264490.4:c.361C>G	XP_005264547.2:p.Pro121Ala