Canonical Allele Identifier: CA310122264

Gene: GP6 GP6-AS1

Linked Data

• dbSNP Id: rs748339028
• gnomAD v4: 19-55015641-C-G
• MyVariant Identifiers: chr19:g.55015641C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015641C>G , CM000681.2:g.55015641C>G	GRCh38
NC_000019.8:g.60218821C>G	NCBI36
NG_031963.2:g.27624G>C , LRG_560:g.27624G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.779+38G>C (GP6)	ENSP00000308782.3:n.779+38G>C
ENST00000333884.2:c.721+42G>C (GP6)	ENSP00000334552.2:n.721+42G>C
ENST00000417454.5:c.775+42G>C (GP6) MANE Select	ENSP00000394922.1:n.775+42G>C
ENST00000465648.1:n.219+42G>C (GP6)
NM_001083899.2:c.779+38G>C , LRG_560t3:c.779+38G>C (GP6)	NP_001077368.2:n.779+38G>C
NM_001256017.2:c.721+42G>C , LRG_560t2:c.721+42G>C (GP6)	NP_001242946.2:n.721+42G>C
NM_016363.5:c.775+42G>C , LRG_560t1:c.775+42G>C (GP6) MANE Select	NP_057447.5:n.775+42G>C
XR_001754012.2:n.312+9177C>G (GP6-AS1)
XR_001754013.2:n.305+9177C>G (GP6-AS1)