Canonical Allele Identifier: CA9677749
Community Standard Title: NM_032836.3(FIZ1):c.20C>T (p.Pro7Leu)
Gene: FIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55597846G>A , CM000681.2:g.55597846G>A GRCh38
NC_000019.9:g.56109212G>A , CM000681.1:g.56109212G>A GRCh37
NC_000019.8:g.60801024G>A NCBI36
NG_052830.1:g.9125C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032836.3:c.20C>T MANE Select NP_116225.2:p.Pro7Leu
ENST00000221665.5:c.20C>T MANE Select ENSP00000221665.2:p.Pro7Leu
NM_032836.2:c.20C>T NP_116225.2:p.Pro7Leu
ENST00000221665.4:c.20C>T ENSP00000221665.2:p.Pro7Leu
ENST00000587414.1:c.20C>T ENSP00000468018.1:p.Pro7Leu
ENST00000590714.1:c.20C>T ENSP00000465131.1:p.Pro7Leu
ENST00000592585.1:c.20C>T ENSP00000468529.1:p.Pro7Leu
XM_005259352.3:c.20C>T XP_005259409.1:p.Pro7Leu
XM_005259352.4:c.20C>T XP_005259409.1:p.Pro7Leu
XM_011527426.1:c.206+1628C>T XP_011525728.1:n.206+1628C>T
XM_011527426.2:c.206+1628C>T XP_011525728.1:n.206+1628C>T
XM_011527427.1:c.5+649C>T XP_011525729.1:n.5+649C>T