Canonical Allele Identifier: CA6561733
Gene: GPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 157542
ClinVar RCV Id: RCV000144887
dbSNP Id: rs199673455

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50107640G>C , CM000674.2:g.50107640G>C GRCh38
NC_000012.11:g.50501423G>C , CM000674.1:g.50501423G>C GRCh37
NC_000012.10:g.48787690G>C NCBI36
NG_032155.1:g.660G>C
NG_032168.1:g.8822G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301149.8:c.686G>C MANE Select ENSP00000301149.3:p.Arg229Pro
ENST00000301149.7:c.686G>C ENSP00000301149.3:p.Arg229Pro
ENST00000547190.5:n.656-384G>C
ENST00000548814.1:c.617G>C ENSP00000446768.1:p.Arg206Pro
NM_001257199.1:c.617G>C NP_001244128.1:p.Arg206Pro
NM_005276.3:c.686G>C NP_005267.2:p.Arg229Pro
NM_005276.4:c.686G>C MANE Select NP_005267.2:p.Arg229Pro
NM_001257199.2:c.617G>C NP_001244128.1:p.Arg206Pro