Canonical Allele Identifier: CA6551132

Gene: PRPH TROAP-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49297993C>T , CM000674.2:g.49297993C>T	GRCh38
NC_000012.11:g.49691776C>T , CM000674.1:g.49691776C>T	GRCh37
NC_000012.10:g.47978043C>T	NCBI36
NG_008354.1:g.7868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257860.9:c.1303C>T (PRPH) MANE Select	ENSP00000257860.4:p.Arg435Trp
ENST00000257860.8:c.1303C>T (PRPH)	ENSP00000257860.4:p.Arg435Trp
ENST00000530631.1:n.460C>T (PRPH)
ENST00000532332.2:c.488C>T (PRPH)
NM_006262.3:c.1303C>T (PRPH)	NP_006253.2:p.Arg435Trp
NR_120449.1:n.497-287G>A (TROAP-AS1)
XM_005269025.1:c.1303C>T (PRPH)	XP_005269082.1:p.Arg435Trp
XR_944623.1:n.1621C>T (PRPH)
XM_005269025.2:c.1303C>T (PRPH)	XP_005269082.1:p.Arg435Trp
XR_944623.2:n.1490C>T (PRPH)
NM_006262.4:c.1303C>T (PRPH) MANE Select	NP_006253.2:p.Arg435Trp