Canonical Allele Identifier: CA392728299

Gene: APH1B

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63305656T>C , CM000677.2:g.63305656T>C	GRCh38
NC_000015.9:g.63597855T>C , CM000677.1:g.63597855T>C	GRCh37
NC_000015.8:g.61384908T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261879.10:c.649T>C MANE Select	ENSP00000261879.5:p.Phe217Leu
ENST00000261879.9:c.649T>C	ENSP00000261879.5:p.Phe217Leu
ENST00000380340.8:c.*467T>C	ENSP00000369697.4:n.*467T>C
ENST00000380343.8:c.526T>C	ENSP00000369700.4:p.Phe176Leu
ENST00000559823.1:n.171-49T>C
ENST00000559971.5:c.785T>C	ENSP00000453516.1:n.785T>C
ENST00000560353.1:c.521T>C	ENSP00000453327.1:p.Ile174Thr
ENST00000560716.1:n.483T>C
ENST00000560890.5:c.487T>C	ENSP00000453002.1:p.Phe163Leu
NM_001145646.1:c.526T>C	NP_001139118.1:p.Phe176Leu
NM_031301.3:c.649T>C	NP_112591.2:p.Phe217Leu
XM_024450085.1:c.487T>C	XP_024305853.1:p.Phe163Leu
XM_024450086.1:c.487T>C	XP_024305854.1:p.Phe163Leu
NM_031301.4:c.649T>C MANE Select	NP_112591.2:p.Phe217Leu
NM_001145646.2:c.526T>C	NP_001139118.1:p.Phe176Leu