Canonical Allele Identifier: CA397562486

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650936-T-C
• MyVariant Identifiers: chr17:g.1554230T>C (hg19) ; chr17:g.1650936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650936T>C , CM000679.2:g.1650936T>C	GRCh38
NC_000017.10:g.1554230T>C , CM000679.1:g.1554230T>C	GRCh37
NC_000017.9:g.1500980T>C	NCBI36
NG_009118.1:g.38947A>G
NG_033061.1:g.4163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6694A>G	ENSP00000460849.2:p.Met2232Val
ENST00000703537.1:c.2622A>G
ENST00000703538.1:c.*6597A>G	ENSP00000515361.1:n.*6597A>G
ENST00000703539.1:n.3188A>G
ENST00000703540.1:c.6727A>G	ENSP00000515362.1:p.Met2243Val
ENST00000703541.1:c.6739A>G	ENSP00000515363.1:p.Met2247Val
ENST00000304992.11:c.6874A>G MANE Select	ENSP00000304350.6:p.Met2292Val
ENST00000304992.10:c.6874A>G	ENSP00000304350.6:p.Met2292Val
ENST00000571958.1:c.163-90A>G
ENST00000572621.5:c.6874A>G	ENSP00000460348.1:p.Met2292Val
ENST00000572723.1:n.863A>G
NM_006445.3:c.6874A>G	NP_006436.3:p.Met2292Val
XM_024450537.1:c.6874A>G	XP_024306305.1:p.Met2292Val
NM_006445.4:c.6874A>G MANE Select	NP_006436.3:p.Met2292Val