Canonical Allele Identifier: CA397562487

Gene: PRPF8

Linked Data

• MyVariant Identifiers: chr17:g.1554230T>G (hg19) ; chr17:g.1650936T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6694A>C	ENSP00000460849.2:p.Met2232Leu
ENST00000703537.1:c.2622A>C
ENST00000703538.1:c.*6597A>C	ENSP00000515361.1:n.*6597A>C
ENST00000703539.1:n.3188A>C
ENST00000703540.1:c.6727A>C	ENSP00000515362.1:p.Met2243Leu
ENST00000703541.1:c.6739A>C	ENSP00000515363.1:p.Met2247Leu
ENST00000304992.11:c.6874A>C MANE Select	ENSP00000304350.6:p.Met2292Leu
ENST00000304992.10:c.6874A>C	ENSP00000304350.6:p.Met2292Leu
ENST00000571958.1:c.163-90A>C
ENST00000572621.5:c.6874A>C	ENSP00000460348.1:p.Met2292Leu
ENST00000572723.1:n.863A>C
NM_006445.3:c.6874A>C	NP_006436.3:p.Met2292Leu
XM_024450537.1:c.6874A>C	XP_024306305.1:p.Met2292Leu
NM_006445.4:c.6874A>C MANE Select	NP_006436.3:p.Met2292Leu