Canonical Allele Identifier: CA049137
Gene: SGPL1 HGNC NCBI
PCBD1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.70884002C>T
GRCh37 chr10:g.72643759C>T
Revel Score:
ENST00000299299 (MANE Select) 0.629
gnomAD v2:
10:72643759 C / T
gnomAD v3:
10:70884002 C / T
gnomAD v4:
chr10-70884002-C-T
Joint Max Group AF 0.00204942 (AFR)
Genomes Max Group AF 0.0022237 (AFR)
Exomes Max Group AF 0.00158927 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70884002C>T , CM000672.2:g.70884002C>T GRCh38
NC_000010.10:g.72643759C>T , CM000672.1:g.72643759C>T GRCh37
NC_000010.9:g.72313765C>T NCBI36
NG_008646.1:g.9783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697988.1:c.571-9757C>T (SGPL1) ENSP00000513492.1:n.571-9757C>T
ENST00000299299.4:c.263G>A (PCBD1) MANE Select ENSP00000299299.3:p.Arg88Gln
ENST00000299299.3:c.263G>A (PCBD1) ENSP00000299299.3:p.Arg88Gln
ENST00000493228.1:n.662G>A (PCBD1)
ENST00000493961.5:n.183+1150G>A (PCBD1)
NM_000281.3:c.263G>A (PCBD1) NP_000272.1:p.Arg88Gln
NM_001289797.1:c.116G>A (PCBD1) NP_001276726.1:p.Arg39Gln
XM_005269877.1:c.216+1150G>A (PCBD1) XP_005269934.1:n.216+1150G>A
NM_001323004.1:c.216+1150G>A (PCBD1) NP_001309933.1:n.216+1150G>A
NM_000281.4:c.263G>A (PCBD1) MANE Select NP_000272.1:p.Arg88Gln
NM_001289797.2:c.116G>A (PCBD1) NP_001276726.1:p.Arg39Gln
NM_001323004.2:c.216+1150G>A (PCBD1) NP_001309933.1:n.216+1150G>A
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