Canonical Allele Identifier: CA377356638

Gene: SFTPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79613999G>T , CM000672.2:g.79613999G>T	GRCh38
NC_000010.10:g.81373755G>T , CM000672.1:g.81373755G>T	GRCh37
NG_021189.1:g.8061G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005411.5:c.633G>T MANE Select	NP_005402.3:p.Trp211Cys
ENST00000398636.8:c.633G>T MANE Select	ENSP00000381633.3:p.Trp211Cys
NM_001093770.2:c.678G>T	NP_001087239.2:p.Trp226Cys
NM_001093770.3:c.678G>T	NP_001087239.2:p.Trp226Cys
NM_001164644.1:c.633G>T	NP_001158116.1:p.Trp211Cys
NM_001164644.2:c.633G>T	NP_001158116.1:p.Trp211Cys
NM_001164645.1:c.531G>T	NP_001158117.1:p.Trp177Cys
NM_001164645.2:c.531G>T	NP_001158117.1:p.Trp177Cys
NM_001164646.1:c.486G>T	NP_001158118.1:p.Trp162Cys
NM_001164646.2:c.486G>T	NP_001158118.1:p.Trp162Cys
NM_001164647.1:c.633G>T	NP_001158119.1:p.Trp211Cys
NM_005411.4:c.633G>T	NP_005402.3:p.Trp211Cys
ENST00000398636.7:c.633G>T	ENSP00000381633.3:p.Trp211Cys
ENST00000419470.6:c.678G>T	ENSP00000397082.2:p.Trp226Cys
ENST00000428376.6:c.633G>T	ENSP00000411102.2:p.Trp211Cys
XM_005270062.3:c.633G>T	XP_005270119.1:p.Trp211Cys
XM_005270062.5:c.633G>T	XP_005270119.1:p.Trp211Cys
XM_006717953.2:c.678G>T	XP_006718016.1:p.Trp226Cys