Canonical Allele Identifier: CA2587209002

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015720-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015720A>G , CM000681.2:g.55015720A>G	GRCh38
NC_000019.8:g.60218900A>G	NCBI36
NG_031963.2:g.27545T>C , LRG_560:g.27545T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.738T>C (GP6)	ENSP00000308782.3:p.Ser246=
ENST00000333884.2:c.684T>C (GP6)	ENSP00000334552.2:p.Ser228=
ENST00000417454.5:c.738T>C (GP6) MANE Select	ENSP00000394922.1:p.Ser246=
ENST00000465648.1:n.182T>C (GP6)
NM_001083899.2:c.738T>C , LRG_560t3:c.738T>C (GP6)	NP_001077368.2:p.Ser246=
NM_001256017.2:c.684T>C , LRG_560t2:c.684T>C (GP6)	NP_001242946.2:p.Ser228=
NM_016363.5:c.738T>C , LRG_560t1:c.738T>C (GP6) MANE Select	NP_057447.5:p.Ser246=
XR_001754012.2:n.312+9256A>G (GP6-AS1)
XR_001754013.2:n.305+9256A>G (GP6-AS1)