Canonical Allele Identifier: CA1918455749

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70884013G= , CM000672.2:g.70884013G= GRCh38
NC_000010.10:g.72643770G= , CM000672.1:g.72643770G= GRCh37
NC_000010.9:g.72313776G= NCBI36
NG_008646.1:g.9772C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697988.1:c.571-9746G= (SGPL1) ENSP00000513492.1:n.571-9746G=
ENST00000299299.4:c.252C= (PCBD1) MANE Select ENSP00000299299.3:p.Gly84=
ENST00000299299.3:c.252C= (PCBD1) ENSP00000299299.3:p.Gly84=
ENST00000493228.1:n.651C= (PCBD1)
ENST00000493961.5:n.183+1139C= (PCBD1)
NM_000281.3:c.252C= (PCBD1) NP_000272.1:p.Gly84=
NM_001289797.1:c.105C= (PCBD1) NP_001276726.1:p.Gly35=
XM_005269877.1:c.216+1139C= (PCBD1) XP_005269934.1:n.216+1139C=
NM_001323004.1:c.216+1139C= (PCBD1) NP_001309933.1:n.216+1139C=
NM_000281.4:c.252C= (PCBD1) MANE Select NP_000272.1:p.Gly84=
NM_001289797.2:c.105C= (PCBD1) NP_001276726.1:p.Gly35=
NM_001323004.2:c.216+1139C= (PCBD1) NP_001309933.1:n.216+1139C=