Canonical Allele Identifier: CA2748952
Gene: MASP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.187229876G>A , CM000665.2:g.187229876G>A GRCh38
NC_000003.11:g.186947664G>A , CM000665.1:g.186947664G>A GRCh37
NC_000003.10:g.188430358G>A NCBI36
NG_029440.1:g.67147C>T , LRG_349:g.67147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337774.10:c.1325C>T MANE Plus Clinical ENSP00000336792.5:p.Ser442Phe
ENST00000337774.9:c.1325C>T ENSP00000336792.5:p.Ser442Phe
ENST00000468121.1:n.199C>T
NM_001879.5:c.1325C>T , LRG_349t2:c.1325C>T NP_001870.3:p.Ser442Phe
XM_011512990.1:c.1346C>T XP_011511292.1:p.Ser449Phe
XM_011512990.2:c.1346C>T XP_011511292.1:p.Ser449Phe
XM_017006870.2:c.1232C>T XP_016862359.1:p.Ser411Phe
XM_017006871.1:c.1325-3356C>T XP_016862360.1:n.1325-3356C>T
NM_001879.6:c.1325C>T MANE Plus Clinical NP_001870.3:p.Ser442Phe