Canonical Allele Identifier: CA7016331
Gene: GPC5 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.91693325C>T , CM000675.2:g.91693325C>T GRCh38
NC_000013.10:g.92345579C>T , CM000675.1:g.92345579C>T GRCh37
NC_000013.9:g.91143580C>T NCBI36
NG_009370.1:g.299645C>T
NG_009370.2:g.299645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377067.9:c.464C>T MANE Select ENSP00000366267.3:p.Ala155Val
ENST00000377067.8:c.464C>T ENSP00000366267.3:p.Ala155Val
ENST00000618596.1:c.140C>T ENSP00000480819.1:p.Ala47Val
NM_004466.5:c.464C>T NP_004457.1:p.Ala155Val
XM_011521054.1:c.464C>T XP_011519356.1:p.Ala155Val
XM_011521055.1:c.464C>T XP_011519357.1:p.Ala155Val
XM_011521056.1:c.464C>T XP_011519358.1:p.Ala155Val
XM_011521057.1:c.464C>T XP_011519359.1:p.Ala155Val
XM_011521058.1:c.464C>T XP_011519360.1:p.Ala155Val
XM_011521059.1:c.464C>T XP_011519361.1:p.Ala155Val
XM_011521060.1:c.464C>T XP_011519362.1:p.Ala155Val
XM_011521054.3:c.464C>T XP_011519356.1:p.Ala155Val
XM_011521055.3:c.464C>T XP_011519357.1:p.Ala155Val
XM_011521056.3:c.464C>T XP_011519358.1:p.Ala155Val
XM_011521057.3:c.464C>T XP_011519359.1:p.Ala155Val
XM_011521058.2:c.464C>T XP_011519360.1:p.Ala155Val
XM_011521059.2:c.464C>T XP_011519361.1:p.Ala155Val
XM_011521060.2:c.464C>T XP_011519362.1:p.Ala155Val
XM_017020435.2:c.464C>T XP_016875924.1:p.Ala155Val
XM_017020436.2:c.464C>T XP_016875925.1:p.Ala155Val
XM_017020437.1:c.464C>T XP_016875926.1:p.Ala155Val
NM_004466.6:c.464C>T MANE Select NP_004457.1:p.Ala155Val