Canonical Allele Identifier: CA377357337

Gene: SFTPD MBL1P

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372292.8:c.538A>C (SFTPD) MANE Select	ENSP00000361366.3:p.Thr180Pro
ENST00000678361.1:n.2743A>C (SFTPD)
ENST00000679234.1:n.2664A>C (SFTPD)
ENST00000372292.7:c.538A>C (SFTPD)	ENSP00000361366.3:p.Thr180Pro
ENST00000421889.1:n.333+431T>G (MBL1P)
ENST00000444384.3:c.577A>C (SFTPD)	ENSP00000394325.1:p.Thr193Pro
NM_003019.4:c.538A>C (SFTPD)	NP_003010.4:p.Thr180Pro
XM_011540087.1:c.538A>C (SFTPD)	XP_011538389.1:p.Thr180Pro
XM_011540088.1:c.421A>C (SFTPD)	XP_011538390.1:p.Thr141Pro
XM_011540088.2:c.421A>C (SFTPD)	XP_011538390.1:p.Thr141Pro
NM_003019.5:c.538A>C (SFTPD) MANE Select	NP_003010.4:p.Thr180Pro