Canonical Allele Identifier: CA049198

Linked Data

dbSNP Id: rs727505360

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70885854C>A , CM000672.2:g.70885854C>A GRCh38
NC_000010.10:g.72645611C>A , CM000672.1:g.72645611C>A GRCh37
NC_000010.9:g.72315617C>A NCBI36
NG_008646.1:g.7931G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697988.1:c.571-7905C>A (SGPL1) ENSP00000513492.1:n.571-7905C>A
ENST00000299299.4:c.79G>T (PCBD1) MANE Select ENSP00000299299.3:p.Glu27Ter
ENST00000299299.3:c.79G>T (PCBD1) ENSP00000299299.3:p.Glu27Ter
ENST00000493228.1:n.478G>T (PCBD1)
ENST00000493961.5:n.46G>T (PCBD1)
NM_000281.3:c.79G>T (PCBD1) NP_000272.1:p.Glu27Ter
NM_001289797.1:c.-69G>T (PCBD1) NP_001276726.1:n.-69G>T
XM_005269877.1:c.79G>T (PCBD1) XP_005269934.1:p.Glu27Ter
NM_001323004.1:c.79G>T (PCBD1) NP_001309933.1:p.Glu27Ter
NM_000281.4:c.79G>T (PCBD1) MANE Select NP_000272.1:p.Glu27Ter
NM_001289797.2:c.-69G>T (PCBD1) NP_001276726.1:n.-69G>T
NM_001323004.2:c.79G>T (PCBD1) NP_001309933.1:p.Glu27Ter