Canonical Allele Identifier: CA177970

Gene: SFTPD MBL1P

Linked Data

• ClinVar Variation Id: 165219
• ClinVar RCV Id: RCV000151865 ; RCV001689698
• dbSNP Id: rs721917
• ExAC: 10:81706324 A / G
• gnomAD v2: 10-81706324-A-G
• gnomAD v3: 10-79946568-A-G
• gnomAD v4: 10-79946568-A-G
• MyVariant Identifiers: chr10:g.81706324A>G (hg19) ; chr10:g.79946568A>G (hg38)

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