Canonical Allele Identifier: CA9972222

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64016764C>T , CM000682.2:g.64016764C>T	GRCh38
NC_000020.10:g.62648117C>T , CM000682.1:g.62648117C>T	GRCh37
NC_000020.9:g.62118561C>T	NCBI36
NG_029719.1:g.40687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.1566C>T (PRPF6) MANE Select	ENSP00000266079.4:p.Cys522=
ENST00000217130.4:c.-7+21775G>A (ZNF512B)	ENSP00000217130.3:n.-7+21775G>A
ENST00000266079.4:c.1566C>T (PRPF6)	ENSP00000266079.4:p.Cys522=
ENST00000450537.5:c.-6+31941G>A (ZNF512B)	ENSP00000393795.1:n.-6+31941G>A
NM_012469.3:c.1566C>T (PRPF6)	NP_036601.2:p.Cys522=
XM_006723769.2:c.1347C>T (PRPF6)	XP_006723832.1:p.Cys449=
XM_006723769.3:c.1347C>T (PRPF6)	XP_006723832.1:p.Cys449=
NM_012469.4:c.1566C>T (PRPF6) MANE Select	NP_036601.2:p.Cys522=