Canonical Allele Identifier: CA347492481

Gene: SFTPB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85667684C>G , CM000664.2:g.85667684C>G	GRCh38
NC_000002.11:g.85894807C>G , CM000664.1:g.85894807C>G	GRCh37
NC_000002.10:g.85748318C>G	NCBI36
NG_016967.1:g.6058G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000542.5:c.190G>C MANE Select	NP_000533.4:p.Gly64Arg
ENST00000519937.7:c.190G>C MANE Select	ENSP00000428719.2:p.Gly64Arg
NM_000542.3:c.226G>C	NP_000533.3:p.Gly76Arg
NM_000542.4:c.190G>C	NP_000533.4:p.Gly64Arg
NM_001367281.1:c.190G>C	NP_001354210.1:p.Gly64Arg
NM_198843.2:c.226G>C	NP_942140.2:p.Gly76Arg
NM_198843.3:c.190G>C	NP_942140.3:p.Gly64Arg
ENST00000393822.7:c.190G>C	ENSP00000377409.4:p.Gly64Arg
ENST00000409383.5:c.226G>C	ENSP00000386346.1:p.Gly76Arg
ENST00000409383.6:c.190G>C	ENSP00000386346.2:p.Gly64Arg
ENST00000428225.5:c.179G>C
ENST00000473692.1:n.196G>C
ENST00000519937.6:c.190G>C	ENSP00000428719.2:p.Gly64Arg
XM_005264487.2:c.226G>C	XP_005264544.1:p.Gly76Arg
XM_005264488.2:c.190G>C	XP_005264545.2:p.Gly64Arg
XM_005264488.4:c.190G>C	XP_005264545.2:p.Gly64Arg
XM_005264490.3:c.190G>C	XP_005264547.2:p.Gly64Arg
XM_005264490.4:c.190G>C	XP_005264547.2:p.Gly64Arg