Canonical Allele Identifier: CA2576890590

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015714-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015714G>T , CM000681.2:g.55015714G>T	GRCh38
NC_000019.8:g.60218894G>T	NCBI36
NG_031963.2:g.27551C>A , LRG_560:g.27551C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.744C>A (GP6)	ENSP00000308782.3:p.Thr248=
ENST00000333884.2:c.690C>A (GP6)	ENSP00000334552.2:p.Thr230=
ENST00000417454.5:c.744C>A (GP6) MANE Select	ENSP00000394922.1:p.Thr248=
ENST00000465648.1:n.188C>A (GP6)
NM_001083899.2:c.744C>A , LRG_560t3:c.744C>A (GP6)	NP_001077368.2:p.Thr248=
NM_001256017.2:c.690C>A , LRG_560t2:c.690C>A (GP6)	NP_001242946.2:p.Thr230=
NM_016363.5:c.744C>A , LRG_560t1:c.744C>A (GP6) MANE Select	NP_057447.5:p.Thr248=
XR_001754012.2:n.312+9250G>T (GP6-AS1)
XR_001754013.2:n.305+9250G>T (GP6-AS1)