Canonical Allele Identifier: CA310122301
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 257424
ClinVar RCV Id: RCV000251969 RCV001683008 RCV001701811
dbSNP Id: rs2304167
gnomAD v3: 19-55015713-C-T
gnomAD v4: 19-55015713-C-T
MyVariant Identifiers: chr19:g.55015713C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015713C>T , CM000681.2:g.55015713C>T GRCh38
NC_000019.8:g.60218893C>T NCBI36
NG_031963.2:g.27552G>A , LRG_560:g.27552G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.745G>A (GP6) ENSP00000308782.3:p.Ala249Thr
ENST00000333884.2:c.691G>A (GP6) ENSP00000334552.2:p.Ala231Thr
ENST00000417454.5:c.745G>A (GP6) MANE Select ENSP00000394922.1:p.Ala249Thr
ENST00000465648.1:n.189G>A (GP6)
NM_001083899.2:c.745G>A , LRG_560t3:c.745G>A (GP6) NP_001077368.2:p.Ala249Thr
NM_001256017.2:c.691G>A , LRG_560t2:c.691G>A (GP6) NP_001242946.2:p.Ala231Thr
NM_016363.5:c.745G>A , LRG_560t1:c.745G>A (GP6) MANE Select NP_057447.5:p.Ala249Thr
XR_001754012.2:n.312+9249C>T (GP6-AS1)
XR_001754013.2:n.305+9249C>T (GP6-AS1)
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