Canonical Allele Identifier: CA370538441
Gene: SFTPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22164010T>C , CM000670.2:g.22164010T>C GRCh38
NC_000008.10:g.22021523T>C , CM000670.1:g.22021523T>C GRCh37
NC_000008.9:g.22077468T>C NCBI36
NG_016968.1:g.7340T>C
NG_029659.1:g.3871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000679463.1:c.545T>C MANE Select ENSP00000505152.1:p.Leu182Pro
ENST00000318561.7:c.563T>C ENSP00000316152.3:p.Leu188Pro
ENST00000437090.6:c.*190T>C ENSP00000407931.2:n.*190T>C
ENST00000520605.5:c.277-256T>C ENSP00000430266.1:n.277-256T>C
ENST00000521315.5:c.545T>C ENSP00000430410.1:p.Leu182Pro
ENST00000524255.5:c.404T>C ENSP00000429552.1:p.Leu135Pro
NM_001172357.1:c.545T>C NP_001165828.1:p.Leu182Pro
NM_001172410.1:c.563T>C NP_001165881.1:p.Leu188Pro
NM_003018.3:c.563T>C NP_003009.2:p.Leu188Pro
XM_006716379.2:c.545T>C XP_006716442.1:p.Leu182Pro
XM_006716380.2:c.545T>C XP_006716443.1:p.Leu182Pro
XM_011544612.1:c.404T>C XP_011542914.1:p.Leu135Pro
XM_011544613.1:c.404T>C XP_011542915.1:p.Leu135Pro
NM_001317778.1:c.545T>C NP_001304707.1:p.Leu182Pro
NM_001317779.1:c.404T>C NP_001304708.1:p.Leu135Pro
NM_001317780.1:c.545T>C NP_001304709.1:p.Leu182Pro
XM_011544613.3:c.404T>C XP_011542915.1:p.Leu135Pro
NM_001172357.2:c.545T>C NP_001165828.1:p.Leu182Pro
NM_001172410.2:c.563T>C NP_001165881.1:p.Leu188Pro
NM_001317778.2:c.545T>C MANE Select NP_001304707.1:p.Leu182Pro
NM_001317779.2:c.404T>C NP_001304708.1:p.Leu135Pro
NM_001317780.2:c.545T>C NP_001304709.1:p.Leu182Pro
NM_003018.4:c.563T>C NP_003009.2:p.Leu188Pro
NM_001385653.1:c.563T>C NP_001372582.1:p.Leu188Pro
NM_001385654.1:c.563T>C NP_001372583.1:p.Leu188Pro
NM_001385655.1:c.563T>C NP_001372584.1:p.Leu188Pro
NM_001385656.1:c.545T>C NP_001372585.1:p.Leu182Pro
NM_001385657.1:c.545T>C NP_001372586.1:p.Leu182Pro
NM_001385658.1:c.545T>C NP_001372587.1:p.Leu182Pro
NM_001385659.1:c.545T>C NP_001372588.1:p.Leu182Pro
NM_001385660.1:c.404T>C NP_001372589.1:p.Leu135Pro