Canonical Allele Identifier: CA4132240
Community Standard Title: NM_032415.7(CARD11):c.1994C>T (p.Ser665Leu)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2923280G>A , CM000669.2:g.2923280G>A GRCh38
NC_000007.13:g.2962914G>A , CM000669.1:g.2962914G>A GRCh37
NC_000007.12:g.2929440G>A NCBI36
NG_027759.1:g.125596C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.1994C>T MANE Select NP_115791.3:p.Ser665Leu
ENST00000396946.9:c.1994C>T MANE Select ENSP00000380150.4:p.Ser665Leu
NM_001324281.1:c.1994C>T NP_001311210.1:p.Ser665Leu
NM_001324281.2:c.1994C>T NP_001311210.1:p.Ser665Leu
NM_001324281.3:c.1994C>T NP_001311210.1:p.Ser665Leu
NM_032415.5:c.1994C>T NP_115791.3:p.Ser665Leu
NM_032415.6:c.1994C>T NP_115791.3:p.Ser665Leu
ENST00000355508.3:c.407C>T ENSP00000347695.3:p.Ser136Leu
ENST00000396946.8:c.1994C>T ENSP00000380150.4:p.Ser665Leu
ENST00000698637.1:n.2320C>T
XM_011515585.1:c.1994C>T XP_011513887.1:p.Ser665Leu
XM_011515586.1:c.1994C>T XP_011513888.1:p.Ser665Leu
XM_011515586.2:c.1994C>T XP_011513888.1:p.Ser665Leu
XM_011515587.1:c.1991C>T XP_011513889.1:p.Ser664Leu
XM_011515587.2:c.1991C>T XP_011513889.1:p.Ser664Leu
XR_001744885.1:n.2393C>T