Canonical Allele Identifier: CA4841384
Community Standard Title: NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser)
Gene: ANGPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.107347040C>A , CM000670.2:g.107347040C>A GRCh38
NC_000008.10:g.108359268C>A , CM000670.1:g.108359268C>A GRCh37
NC_000008.9:g.108428444C>A NCBI36
NG_029405.1:g.155987G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001146.5:c.355G>T MANE Select NP_001137.2:p.Ala119Ser
ENST00000517746.6:c.355G>T MANE Select ENSP00000428340.1:p.Ala119Ser
NM_001146.3:c.355G>T NP_001137.2:p.Ala119Ser
NM_001146.4:c.355G>T NP_001137.2:p.Ala119Ser
NM_001199859.1:c.355G>T NP_001186788.1:p.Ala119Ser
NM_001199859.2:c.355G>T NP_001186788.1:p.Ala119Ser
NM_001199859.3:c.355G>T NP_001186788.1:p.Ala119Ser
ENST00000297450.7:c.355G>T ENSP00000297450.3:p.Ala119Ser
ENST00000517746.5:c.355G>T ENSP00000428340.1:p.Ala119Ser
ENST00000520033.1:c.34G>T ENSP00000428908.1:p.Ala12Ser
XR_928319.1:n.807G>T
XR_928319.2:n.422G>T