Canonical Allele Identifier: CA2788455200
Gene: SGPL1 HGNC NCBI
PCBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70883864G>C , CM000672.2:g.70883864G>C GRCh38
NC_000010.10:g.72643621G>C , CM000672.1:g.72643621G>C GRCh37
NC_000010.9:g.72313627G>C NCBI36
NG_008646.1:g.9921C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697988.1:c.571-9895G>C (SGPL1) ENSP00000513492.1:n.571-9895G>C
ENST00000299299.4:c.*86C>G (PCBD1) MANE Select ENSP00000299299.3:n.*86C>G
ENST00000299299.3:c.*86C>G (PCBD1) ENSP00000299299.3:n.*86C>G
ENST00000493961.5:n.183+1288C>G (PCBD1)
NM_000281.3:c.*86C>G (PCBD1) NP_000272.1:n.*86C>G
NM_001289797.1:c.*86C>G (PCBD1) NP_001276726.1:n.*86C>G
XM_005269877.1:c.216+1288C>G (PCBD1) XP_005269934.1:n.216+1288C>G
NM_001323004.1:c.216+1288C>G (PCBD1) NP_001309933.1:n.216+1288C>G
NM_000281.4:c.*86C>G (PCBD1) MANE Select NP_000272.1:n.*86C>G
NM_001289797.2:c.*86C>G (PCBD1) NP_001276726.1:n.*86C>G
NM_001323004.2:c.216+1288C>G (PCBD1) NP_001309933.1:n.216+1288C>G
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