Canonical Allele Identifier: CA123381

Gene: PRPH TROAP-AS1

Linked Data

• ClinVar Variation Id: 13707
• ClinVar RCV Id: RCV000014706 ; RCV000057167 ; RCV000523206 ; RCV003964802
• dbSNP Id: rs58599399
• ExAC: 12:49689404 G / T
• gnomAD v2: 12-49689404-G-T
• gnomAD v3: 12-49295621-G-T
• gnomAD v4: 12-49295621-G-T
• MyVariant Identifiers: chr12:g.49689404G>T (hg19) ; chr12:g.49295621G>T (hg38)
• PubMed: PMID:15446584

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49295621G>T , CM000674.2:g.49295621G>T	GRCh38
NC_000012.11:g.49689404G>T , CM000674.1:g.49689404G>T	GRCh37
NC_000012.10:g.47975671G>T	NCBI36
NG_008354.1:g.5496G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257860.9:c.421G>T (PRPH) MANE Select	ENSP00000257860.4:p.Asp141Tyr
ENST00000257860.8:c.421G>T (PRPH)	ENSP00000257860.4:p.Asp141Tyr
ENST00000451891.4:c.100-18G>T (PRPH)	ENSP00000408897.4:n.100-18G>T
NM_006262.3:c.421G>T (PRPH)	NP_006253.2:p.Asp141Tyr
NR_120449.1:n.2451C>A (TROAP-AS1)
XM_005269025.1:c.421G>T (PRPH)	XP_005269082.1:p.Asp141Tyr
XR_944623.1:n.609G>T (PRPH)
XM_005269025.2:c.421G>T (PRPH)	XP_005269082.1:p.Asp141Tyr
XR_944623.2:n.478G>T (PRPH)
NM_006262.4:c.421G>T (PRPH) MANE Select	NP_006253.2:p.Asp141Tyr