Canonical Allele Identifier: CA310121186

Gene: GP6 GP6-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55014395A>C , CM000681.2:g.55014395A>C	GRCh38
NC_000019.8:g.60217575A>C	NCBI36
NG_031963.2:g.28870T>G , LRG_560:g.28870T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016363.5:c.*526T>G , LRG_560t1:c.*526T>G (GP6) MANE Select	NP_057447.5:n.*526T>G
ENST00000417454.5:c.*526T>G (GP6) MANE Select	ENSP00000394922.1:n.*526T>G
NM_001083899.2:c.1550T>G , LRG_560t3:c.1550T>G (GP6)	NP_001077368.2:p.Met517Arg
NM_001256017.2:c.*526T>G , LRG_560t2:c.*526T>G (GP6)	NP_001242946.2:n.*526T>G
ENST00000310373.7:c.1550T>G (GP6)	ENSP00000308782.3:p.Met517Arg
ENST00000333884.2:c.*526T>G (GP6)	ENSP00000334552.2:n.*526T>G
XR_001754012.2:n.312+7931A>C (GP6-AS1)
XR_001754013.2:n.305+7931A>C (GP6-AS1)