Canonical Allele Identifier: CA377127299

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70884027G>T , CM000672.2:g.70884027G>T GRCh38
NC_000010.10:g.72643784G>T , CM000672.1:g.72643784G>T GRCh37
NC_000010.9:g.72313790G>T NCBI36
NG_008646.1:g.9758C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697988.1:c.571-9732G>T (SGPL1) ENSP00000513492.1:n.571-9732G>T
ENST00000299299.4:c.238C>A (PCBD1) MANE Select ENSP00000299299.3:p.His80Asn
ENST00000299299.3:c.238C>A (PCBD1) ENSP00000299299.3:p.His80Asn
ENST00000493228.1:n.637C>A (PCBD1)
ENST00000493961.5:n.183+1125C>A (PCBD1)
NM_000281.3:c.238C>A (PCBD1) NP_000272.1:p.His80Asn
NM_001289797.1:c.91C>A (PCBD1) NP_001276726.1:p.His31Asn
XM_005269877.1:c.216+1125C>A (PCBD1) XP_005269934.1:n.216+1125C>A
NM_001323004.1:c.216+1125C>A (PCBD1) NP_001309933.1:n.216+1125C>A
NM_000281.4:c.238C>A (PCBD1) MANE Select NP_000272.1:p.His80Asn
NM_001289797.2:c.91C>A (PCBD1) NP_001276726.1:p.His31Asn
NM_001323004.2:c.216+1125C>A (PCBD1) NP_001309933.1:n.216+1125C>A