Canonical Allele Identifier: CA407477426

Gene: GP6 GP6-AS1

Linked Data

• dbSNP Id: rs1654413
• gnomAD v3: 19-55014991-A-G
• gnomAD v4: 19-55014991-A-G
• MyVariant Identifiers: chr19:g.55014991A>G (hg38) ; chr19:g.55014991_55015000delinsGGCGGGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55014991A>G , CM000681.2:g.55014991A>G	GRCh38
NC_000019.8:g.60218171A>G	NCBI36
NG_031963.2:g.28274T>C , LRG_560:g.28274T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.954T>C (GP6)	ENSP00000308782.3:p.Ala318=
ENST00000333884.2:c.896T>C (GP6)	ENSP00000334552.2:p.Leu299Pro
ENST00000417454.5:c.950T>C (GP6) MANE Select	ENSP00000394922.1:p.Leu317Pro
ENST00000465648.1:n.394T>C (GP6)
NM_001083899.2:c.954T>C , LRG_560t3:c.954T>C (GP6)	NP_001077368.2:p.Ala318=
NM_001256017.2:c.896T>C , LRG_560t2:c.896T>C (GP6)	NP_001242946.2:p.Leu299Pro
NM_016363.5:c.950T>C , LRG_560t1:c.950T>C (GP6) MANE Select	NP_057447.5:p.Leu317Pro
XR_001754012.2:n.312+8527A>G (GP6-AS1)
XR_001754013.2:n.305+8527A>G (GP6-AS1)