Canonical Allele Identifier: CA3200791104
Community Standard Title: NM_005708.5(GPC6):c.778C= (p.Leu260=)
Gene: GPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.94027795C= , CM000675.2:g.94027795C= GRCh38
NC_000013.10:g.94680049C= , CM000675.1:g.94680049C= GRCh37
NC_000013.9:g.93478050C= NCBI36
NG_011880.1:g.805972C=

Transcript Alleles

HGVS Amino-acid Change
NM_005708.5:c.778C= MANE Select NP_005699.1:p.Leu260=
ENST00000377047.9:c.778C= MANE Select ENSP00000366246.3:p.Leu260=
NM_005708.3:c.778C= NP_005699.1:p.Leu260=
NM_005708.4:c.778C= NP_005699.1:p.Leu260=
ENST00000377047.8:c.778C= ENSP00000366246.3:p.Leu260=
XM_011521044.1:c.568C= XP_011519346.1:p.Leu190=
XM_011521044.2:c.568C= XP_011519346.1:p.Leu190=
XM_017020298.1:c.568C= XP_016875787.1:p.Leu190=
XM_017020299.2:c.568C= XP_016875788.1:p.Leu190=
XM_017020300.1:c.568C= XP_016875789.1:p.Leu190=
XM_017020301.1:c.412C= XP_016875790.1:p.Leu138=