Canonical Allele Identifier: CA407479331

Linked Data

COSMIC: COSM261128
MyVariant Identifiers: chr19:g.55015732C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015732C>A , CM000681.2:g.55015732C>A GRCh38
NC_000019.8:g.60218912C>A NCBI36
NG_031963.2:g.27533G>T , LRG_560:g.27533G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.726G>T (GP6) ENSP00000308782.3:p.Glu242Asp
ENST00000333884.2:c.672G>T (GP6) ENSP00000334552.2:p.Glu224Asp
ENST00000417454.5:c.726G>T (GP6) MANE Select ENSP00000394922.1:p.Glu242Asp
ENST00000465648.1:n.170G>T (GP6)
NM_001083899.2:c.726G>T , LRG_560t3:c.726G>T (GP6) NP_001077368.2:p.Glu242Asp
NM_001256017.2:c.672G>T , LRG_560t2:c.672G>T (GP6) NP_001242946.2:p.Glu224Asp
NM_016363.5:c.726G>T , LRG_560t1:c.726G>T (GP6) MANE Select NP_057447.5:p.Glu242Asp
XR_001754012.2:n.312+9268C>A (GP6-AS1)
XR_001754013.2:n.305+9268C>A (GP6-AS1)