Canonical Allele Identifier: CA177970
Gene: SFTPD HGNC NCBI
MBL1P HGNC NCBI
COSMIC:
COSM4144913 (not active)
MyVariant.info:
GRCh38 chr10:g.79946568A>G
GRCh37 chr10:g.81706324A>G
Revel Score:
ENST00000372292 (MANE Select) 0.368
ENST00000444384 0.368
gnomAD v2:
10:81706324 A / G
gnomAD v3:
10:79946568 A / G
gnomAD v4:
chr10-79946568-A-G
Joint Max Group AF 0.67004332 (SAS)
Genomes Max Group AF 0.6687698 (SAS)
Exomes Max Group AF 0.66915129 (SAS)
ClinVar RCV:
RCV000151865
RCV001689698
ClinVar Variation:
165219
dbSNP:
721917
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79946568A>G , CM000672.2:g.79946568A>G GRCh38
NC_000010.10:g.81706324A>G , CM000672.1:g.81706324A>G GRCh37
NC_000010.9:g.81696304A>G NCBI36
NG_042218.1:g.7538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372292.8:c.92T>C (SFTPD) MANE Select ENSP00000361366.3:p.Met31Thr
ENST00000372292.7:c.92T>C (SFTPD) ENSP00000361366.3:p.Met31Thr
ENST00000421889.1:n.334-3460A>G (MBL1P)
ENST00000444384.3:c.131T>C (SFTPD) ENSP00000394325.1:p.Met44Thr
NM_003019.4:c.92T>C (SFTPD) NP_003010.4:p.Met31Thr
XM_011540087.1:c.92T>C (SFTPD) XP_011538389.1:p.Met31Thr
XM_011540088.1:c.92T>C (SFTPD) XP_011538390.1:p.Met31Thr
XM_011540088.2:c.92T>C (SFTPD) XP_011538390.1:p.Met31Thr
NM_003019.5:c.92T>C (SFTPD) MANE Select NP_003010.4:p.Met31Thr
Search 100 bp 5'
Search 100 bp 3'