Canonical Allele Identifier: CA407479287

Gene: GP6 GP6-AS1

Linked Data

• MyVariant Identifiers: chr19:g.55015727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015727G>C , CM000681.2:g.55015727G>C	GRCh38
NC_000019.8:g.60218907G>C	NCBI36
NG_031963.2:g.27538C>G , LRG_560:g.27538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310373.7:c.731C>G (GP6)	ENSP00000308782.3:p.Ser244Cys
ENST00000333884.2:c.677C>G (GP6)	ENSP00000334552.2:p.Ser226Cys
ENST00000417454.5:c.731C>G (GP6) MANE Select	ENSP00000394922.1:p.Ser244Cys
ENST00000465648.1:n.175C>G (GP6)
NM_001083899.2:c.731C>G , LRG_560t3:c.731C>G (GP6)	NP_001077368.2:p.Ser244Cys
NM_001256017.2:c.677C>G , LRG_560t2:c.677C>G (GP6)	NP_001242946.2:p.Ser226Cys
NM_016363.5:c.731C>G , LRG_560t1:c.731C>G (GP6) MANE Select	NP_057447.5:p.Ser244Cys
XR_001754012.2:n.312+9263G>C (GP6-AS1)
XR_001754013.2:n.305+9263G>C (GP6-AS1)