Canonical Allele Identifier: CA152423
Community Standard Title: NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)
Gene: CIDEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9877177C>A , CM000665.2:g.9877177C>A GRCh38
NC_000003.11:g.9918861C>A , CM000665.1:g.9918861C>A GRCh37
NC_000003.10:g.9893861C>A NCBI36
NG_042291.1:g.8078G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321142.2:c.96G>T MANE Select NP_001308071.1:p.Leu32=
ENST00000336832.7:c.96G>T MANE Select ENSP00000338642.2:p.Leu32=
NM_001199551.1:c.96G>T NP_001186480.1:p.Leu32=
NM_001199551.2:c.96G>T NP_001186480.1:p.Leu32=
NM_001199552.1:c.96G>T NP_001186481.1:p.Leu32=
NM_001199552.2:c.96G>T NP_001186481.1:p.Leu32=
NM_001199623.1:c.135G>T NP_001186552.1:p.Leu45=
NM_001199623.2:c.135G>T NP_001186552.1:p.Leu45=
NM_001321142.1:c.96G>T NP_001308071.1:p.Leu32=
NM_001321143.1:c.-16+1257G>T NP_001308072.1:n.-16+1257G>T
NM_001321143.2:c.-16+1257G>T NP_001308072.1:n.-16+1257G>T
NM_001321144.1:c.-16+1257G>T NP_001308073.1:n.-16+1257G>T
NM_001321144.2:c.-16+1257G>T NP_001308073.1:n.-16+1257G>T
NM_001378491.1:c.96G>T NP_001365420.1:p.Leu32=
NM_022094.3:c.96G>T NP_071377.2:p.Leu32=
ENST00000336832.6:c.96G>T ENSP00000338642.2:p.Leu32=
ENST00000383817.5:c.135G>T ENSP00000373328.2:p.Leu45=
ENST00000423850.5:c.-16+1257G>T ENSP00000400649.1:n.-16+1257G>T
ENST00000430427.5:c.96G>T ENSP00000408631.1:p.Leu32=
ENST00000430427.6:c.96G>T ENSP00000408631.1:p.Leu32=
ENST00000443115.1:c.96G>T ENSP00000411356.1:p.Leu32=
ENST00000455015.5:c.-16+1257G>T ENSP00000392975.1:n.-16+1257G>T
ENST00000455015.6:c.-16+1257G>T ENSP00000392975.1:n.-16+1257G>T
ENST00000618572.4:c.96G>T ENSP00000483641.1:p.Leu32=
ENST00000675828.1:c.96G>T ENSP00000502377.1:p.Leu32=
ENST00000679265.1:c.96G>T ENSP00000504614.1:p.Leu32=
XM_005265374.3:c.96G>T XP_005265431.1:p.Leu32=
XM_005265375.3:c.-16+1257G>T XP_005265432.1:n.-16+1257G>T
XM_005265376.2:c.-16+1257G>T XP_005265433.1:n.-16+1257G>T
XM_024453700.1:c.96G>T XP_024309468.1:p.Leu32=