Canonical Allele Identifier: CA1922422901

Gene: SFTPD MBL1P

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79941767T>A , CM000672.2:g.79941767T>A	GRCh38
NC_000010.10:g.81701523T>A , CM000672.1:g.81701523T>A	GRCh37
NC_000010.9:g.81691503T>A	NCBI36
NG_042218.1:g.12339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372292.8:c.550+187A>T (SFTPD) MANE Select	ENSP00000361366.3:n.550+187A>T
ENST00000678361.1:n.2755+187A>T (SFTPD)
ENST00000679234.1:n.2676+187A>T (SFTPD)
ENST00000372292.7:c.550+187A>T (SFTPD)	ENSP00000361366.3:n.550+187A>T
ENST00000421889.1:n.333+232T>A (MBL1P)
ENST00000444384.3:c.589+187A>T (SFTPD)	ENSP00000394325.1:n.589+187A>T
NM_003019.4:c.550+187A>T (SFTPD)	NP_003010.4:n.550+187A>T
XM_011540087.1:c.550+187A>T (SFTPD)	XP_011538389.1:n.550+187A>T
XM_011540088.1:c.433+187A>T (SFTPD)	XP_011538390.1:n.433+187A>T
XM_011540088.2:c.433+187A>T (SFTPD)	XP_011538390.1:n.433+187A>T
NM_003019.5:c.550+187A>T (SFTPD) MANE Select	NP_003010.4:n.550+187A>T