Canonical Allele Identifier: CA2587209006

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015725-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015725T>G , CM000681.2:g.55015725T>G	GRCh38
NC_000019.8:g.60218905T>G	NCBI36
NG_031963.2:g.27540A>C , LRG_560:g.27540A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.733A>C (GP6)	ENSP00000308782.3:p.Arg245=
ENST00000333884.2:c.679A>C (GP6)	ENSP00000334552.2:p.Arg227=
ENST00000417454.5:c.733A>C (GP6) MANE Select	ENSP00000394922.1:p.Arg245=
ENST00000465648.1:n.177A>C (GP6)
NM_001083899.2:c.733A>C , LRG_560t3:c.733A>C (GP6)	NP_001077368.2:p.Arg245=
NM_001256017.2:c.679A>C , LRG_560t2:c.679A>C (GP6)	NP_001242946.2:p.Arg227=
NM_016363.5:c.733A>C , LRG_560t1:c.733A>C (GP6) MANE Select	NP_057447.5:p.Arg245=
XR_001754012.2:n.312+9261T>G (GP6-AS1)
XR_001754013.2:n.305+9261T>G (GP6-AS1)