Canonical Allele Identifier: CA177964
Gene: SFTPD HGNC NCBI
MBL1P HGNC NCBI
COSMIC:
COSM4144912 (not active)
MyVariant.info:
GRCh38 chr10:g.79941966T>C
GRCh37 chr10:g.81701722T>C
Revel Score:
ENST00000372292 (MANE Select) 0.276
ENST00000444384 0.276
gnomAD v2:
10:81701722 T / C
gnomAD v3:
10:79941966 T / C
gnomAD v4:
chr10-79941966-T-C
Joint Max Group AF 0.92828454 (AFR)
Genomes Max Group AF 0.92020056 (AFR)
Exomes Max Group AF 0.93300019 (AFR)
ClinVar RCV:
RCV000151861
RCV001651021
ClinVar Variation:
165215
dbSNP:
2243639
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79941966T>C , CM000672.2:g.79941966T>C GRCh38
NC_000010.10:g.81701722T>C , CM000672.1:g.81701722T>C GRCh37
NC_000010.9:g.81691702T>C NCBI36
NG_042218.1:g.12140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372292.8:c.538A>G (SFTPD) MANE Select ENSP00000361366.3:p.Thr180Ala
ENST00000678361.1:n.2743A>G (SFTPD)
ENST00000679234.1:n.2664A>G (SFTPD)
ENST00000372292.7:c.538A>G (SFTPD) ENSP00000361366.3:p.Thr180Ala
ENST00000421889.1:n.333+431T>C (MBL1P)
ENST00000444384.3:c.577A>G (SFTPD) ENSP00000394325.1:p.Thr193Ala
NM_003019.4:c.538A>G (SFTPD) NP_003010.4:p.Thr180Ala
XM_011540087.1:c.538A>G (SFTPD) XP_011538389.1:p.Thr180Ala
XM_011540088.1:c.421A>G (SFTPD) XP_011538390.1:p.Thr141Ala
XM_011540088.2:c.421A>G (SFTPD) XP_011538390.1:p.Thr141Ala
NM_003019.5:c.538A>G (SFTPD) MANE Select NP_003010.4:p.Thr180Ala
Search 100 bp 5'
Search 100 bp 3'