Canonical Allele Identifier: CA170485
Community Standard Title: NM_000330.4(RS1):c.185-3188G>A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650520C>T , CM000685.2:g.18650520C>T GRCh38
NC_000023.10:g.18668640C>T , CM000685.1:g.18668640C>T GRCh37
NC_000023.9:g.18578561C>T NCBI36
NG_008475.1:g.229916C>T
NG_008659.3:g.31929G>A , LRG_702:g.31929G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000330.4:c.185-3188G>A (RS1) MANE Select NP_000321.1:n.185-3188G>A
ENST00000379984.4:c.185-3188G>A (RS1) MANE Select ENSP00000369320.3:n.185-3188G>A
NM_000330.3:c.185-3188G>A , LRG_702t1:c.185-3188G>A (RS1) NP_000321.1:n.185-3188G>A
NM_001037343.1:c.2908C>T (CDKL5) NP_001032420.1:p.Arg970Ter
NM_001037343.2:c.2908C>T (CDKL5) NP_001032420.1:p.Arg970Ter
NM_003159.2:c.2908C>T (CDKL5) NP_003150.1:p.Arg970Ter
NM_003159.3:c.2908C>T (CDKL5) NP_003150.1:p.Arg970Ter
ENST00000379984.3:c.185-3188G>A (RS1) ENSP00000369320.3:n.185-3188G>A
ENST00000379989.6:c.2908C>T (CDKL5) ENSP00000369325.3:p.Arg970Ter
ENST00000379996.7:c.2908C>T (CDKL5) ENSP00000369332.3:p.Arg970Ter
ENST00000476595.1:n.18G>A (RS1)
ENST00000673617.1:n.180C>T (CDKL5)
XM_011545569.1:c.2980C>T (CDKL5) XP_011543871.1:p.Arg994Ter
XM_011545570.1:c.2899C>T (CDKL5) XP_011543872.1:p.Arg967Ter
XR_950484.1:n.3283C>T (CDKL5)