Canonical Allele Identifier: CA515627953

Gene: CDKL5

Linked Data

• MyVariant Identifiers: chrX:g.18622820T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604700T>C , CM000685.2:g.18604700T>C	GRCh38
NC_000023.10:g.18622820T>C , CM000685.1:g.18622820T>C	GRCh37
NC_000023.9:g.18532741T>C	NCBI36
NG_008475.1:g.184096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1776T>C MANE Select	ENSP00000485244.1:p.Phe592=
ENST00000635828.1:c.1776T>C	ENSP00000490170.1:p.Phe592=
ENST00000674046.1:c.1776T>C	ENSP00000501174.1:p.Phe592=
ENST00000379989.6:c.1776T>C	ENSP00000369325.3:p.Phe592=
ENST00000379996.7:c.1776T>C	ENSP00000369332.3:p.Phe592=
ENST00000463994.4:c.1776T>C	ENSP00000485184.1:p.Phe592=
ENST00000623535.1:c.1776T>C	ENSP00000485244.1:p.Phe592=
NM_001037343.1:c.1776T>C	NP_001032420.1:p.Phe592=
NM_003159.2:c.1776T>C	NP_003150.1:p.Phe592=
XM_011545569.1:c.1725T>C	XP_011543871.1:p.Phe575=
XM_011545570.1:c.1644T>C	XP_011543872.1:p.Phe548=
XR_950484.1:n.2028T>C
NM_001323289.1:c.1776T>C	NP_001310218.1:p.Phe592=
NM_001323289.2:c.1776T>C MANE Select	NP_001310218.1:p.Phe592=
NM_001037343.2:c.1776T>C	NP_001032420.1:p.Phe592=
NM_003159.3:c.1776T>C	NP_003150.1:p.Phe592=