Canonical Allele Identifier: CA497388864

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651136-G-C
• MyVariant Identifiers: chr17:g.1554430G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651136G>C , CM000679.2:g.1651136G>C	GRCh38
NC_000017.10:g.1554430G>C , CM000679.1:g.1554430G>C	GRCh37
NC_000017.9:g.1501180G>C	NCBI36
NG_009118.1:g.38747C>G
NG_033061.1:g.3963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6645C>G	ENSP00000460849.2:p.Ala2215=
ENST00000703537.1:c.2573C>G
ENST00000703538.1:c.*6548C>G	ENSP00000515361.1:n.*6548C>G
ENST00000703539.1:n.3139C>G
ENST00000703540.1:c.6678C>G	ENSP00000515362.1:p.Ala2226=
ENST00000703541.1:c.6690C>G	ENSP00000515363.1:p.Ala2230=
ENST00000304992.11:c.6825C>G MANE Select	ENSP00000304350.6:p.Ala2275=
ENST00000304992.10:c.6825C>G	ENSP00000304350.6:p.Ala2275=
ENST00000571958.1:c.134C>G
ENST00000572621.5:c.6825C>G	ENSP00000460348.1:p.Ala2275=
ENST00000572723.1:n.814C>G
NM_006445.3:c.6825C>G	NP_006436.3:p.Ala2275=
XM_024450537.1:c.6825C>G	XP_024306305.1:p.Ala2275=
NM_006445.4:c.6825C>G MANE Select	NP_006436.3:p.Ala2275=