Canonical Allele Identifier: CA213881
Gene: GPD1L HGNC NCBI

Linked Data

ClinVar Variation Id: 788
ClinVar RCV Id: RCV000000824 RCV000029945 RCV000157243 RCV000170920 RCV000203752 RCV000620285 RCV000852958 RCV001081825 RCV003952333
dbSNP Id: rs72552293
ExAC: 3:32181723 A / G
gnomAD v2: 3-32181723-A-G
gnomAD v3: 3-32140231-A-G
gnomAD v4: 3-32140231-A-G
MyVariant Identifiers: chr3:g.32181723A>G (hg19) chr3:g.32140231A>G (hg38)
PubMed: PMID:15140536 PMID:17967976 PMID:22995991 PMID:23465283 PMID:23861362 PMID:24055113 PMID:24715918 PMID:25998140
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32140231A>G , CM000665.2:g.32140231A>G GRCh38
NC_000003.11:g.32181723A>G , CM000665.1:g.32181723A>G GRCh37
NC_000003.10:g.32156727A>G NCBI36
NG_023375.1:g.38721A>G , LRG_419:g.38721A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282541.10:c.370A>G MANE Select ENSP00000282541.6:p.Ile124Val
ENST00000282541.9:c.370A>G ENSP00000282541.5:p.Ile124Val
ENST00000425459.5:c.229A>G ENSP00000408770.1:p.Ile77Val
ENST00000428684.1:c.192A>G ENSP00000392199.1:p.Ala64=
ENST00000429432.5:c.253A>G ENSP00000393861.1:p.Ile85Val
ENST00000431009.1:c.253A>G ENSP00000416518.1:p.Ile85Val
NM_015141.3:c.370A>G , LRG_419t1:c.370A>G NP_055956.1:p.Ile124Val
XM_005264983.2:c.370A>G XP_005265040.1:p.Ile124Val
XM_006713068.2:c.229A>G XP_006713131.1:p.Ile77Val
NM_015141.4:c.370A>G MANE Select NP_055956.1:p.Ile124Val
Search 100 bp 5'
Search 100 bp 3'