Canonical Allele Identifier: CA384694212

Gene: PRPH TROAP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49297196C>T , CM000674.2:g.49297196C>T	GRCh38
NC_000012.11:g.49690979C>T , CM000674.1:g.49690979C>T	GRCh37
NC_000012.10:g.47977246C>T	NCBI36
NG_008354.1:g.7071C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006262.4:c.919C>T (PRPH) MANE Select	NP_006253.2:p.Gln307Ter
ENST00000257860.9:c.919C>T (PRPH) MANE Select	ENSP00000257860.4:p.Gln307Ter
NM_006262.3:c.919C>T (PRPH)	NP_006253.2:p.Gln307Ter
NR_120449.1:n.1007G>A (TROAP-AS1)
ENST00000257860.8:c.919C>T (PRPH)	ENSP00000257860.4:p.Gln307Ter
ENST00000451891.4:c.580C>T (PRPH)	ENSP00000408897.4:p.Gln194Ter
ENST00000530631.1:n.76C>T (PRPH)
ENST00000532332.2:c.104C>T (PRPH)
ENST00000533401.1:n.801C>T (PRPH)
XM_005269025.1:c.919C>T (PRPH)	XP_005269082.1:p.Gln307Ter
XM_005269025.2:c.919C>T (PRPH)	XP_005269082.1:p.Gln307Ter
XR_944623.1:n.1237C>T (PRPH)
XR_944623.2:n.1106C>T (PRPH)