Canonical Allele Identifier: CA1918455709

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70883929T= , CM000672.2:g.70883929T= GRCh38
NC_000010.10:g.72643686T= , CM000672.1:g.72643686T= GRCh37
NC_000010.9:g.72313692T= NCBI36
NG_008646.1:g.9856A=

Transcript Alleles

HGVS Amino-acid change
ENST00000697988.1:c.571-9830T= (SGPL1) ENSP00000513492.1:n.571-9830T=
ENST00000299299.4:c.*21A= (PCBD1) MANE Select ENSP00000299299.3:n.*21A=
ENST00000299299.3:c.*21A= (PCBD1) ENSP00000299299.3:n.*21A=
ENST00000493961.5:n.183+1223A= (PCBD1)
NM_000281.3:c.*21A= (PCBD1) NP_000272.1:n.*21A=
NM_001289797.1:c.*21A= (PCBD1) NP_001276726.1:n.*21A=
XM_005269877.1:c.216+1223A= (PCBD1) XP_005269934.1:n.216+1223A=
NM_001323004.1:c.216+1223A= (PCBD1) NP_001309933.1:n.216+1223A=
NM_000281.4:c.*21A= (PCBD1) MANE Select NP_000272.1:n.*21A=
NM_001289797.2:c.*21A= (PCBD1) NP_001276726.1:n.*21A=
NM_001323004.2:c.216+1223A= (PCBD1) NP_001309933.1:n.216+1223A=