Canonical Allele Identifier: CA2748827

Gene: MASP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187225362A>G , CM000665.2:g.187225362A>G	GRCh38
NC_000003.11:g.186943150A>G , CM000665.1:g.186943150A>G	GRCh37
NC_000003.10:g.188425844A>G	NCBI36
NG_029440.1:g.71661T>C , LRG_349:g.71661T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001879.6:c.1703T>C MANE Plus Clinical	NP_001870.3:p.Val568Ala
ENST00000337774.10:c.1703T>C MANE Plus Clinical	ENSP00000336792.5:p.Val568Ala
NM_001879.5:c.1703T>C , LRG_349t2:c.1703T>C	NP_001870.3:p.Val568Ala
ENST00000337774.9:c.1703T>C	ENSP00000336792.5:p.Val568Ala
XM_011512990.1:c.1724T>C	XP_011511292.1:p.Val575Ala
XM_011512990.2:c.1724T>C	XP_011511292.1:p.Val575Ala
XM_017006870.2:c.1610T>C	XP_016862359.1:p.Val537Ala
XM_017006871.1:c.1586T>C	XP_016862360.1:p.Val529Ala
XR_001741060.2:n.1233+53A>G
XR_924808.1:n.354+53A>G