Canonical Allele Identifier: CA14350070
Community Standard Title: NM_001160305.4(SETD6):c.*1847C>T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58520876C>T , CM000678.2:g.58520876C>T GRCh38
NC_000016.9:g.58554780C>T , CM000678.1:g.58554780C>T GRCh37
NC_000016.8:g.57112281C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001160305.4:c.*1847C>T (SETD6) MANE Select NP_001153777.1:n.*1847C>T
NM_016284.5:c.*82G>A (CNOT1) MANE Select NP_057368.3:n.*82G>A
ENST00000219315.9:c.*1847C>T (SETD6) MANE Select ENSP00000219315.5:n.*1847C>T
ENST00000317147.10:c.*82G>A (CNOT1) MANE Select ENSP00000320949.5:n.*82G>A
NM_001265612.1:c.*82G>A (CNOT1) NP_001252541.1:n.*82G>A
NM_001265612.2:c.*82G>A (CNOT1) NP_001252541.1:n.*82G>A
NM_016284.4:c.*82G>A (CNOT1) NP_057368.3:n.*82G>A
NR_049763.1:n.7714G>A (CNOT1)
NR_049763.2:n.7654G>A (CNOT1)
ENST00000245138.8:c.*276G>A (CNOT1) ENSP00000245138.5:n.*276G>A
ENST00000317147.9:c.*82G>A (CNOT1) ENSP00000320949.5:n.*82G>A
ENST00000394266.8:c.*1847C>T (SETD6) ENSP00000377809.4:n.*1847C>T
ENST00000563130.5:n.2088G>A (CNOT1)
ENST00000567188.5:c.*928G>A (CNOT1) ENSP00000456649.1:n.*928G>A
ENST00000569240.5:c.*82G>A (CNOT1) ENSP00000455635.1:n.*82G>A
XR_001751988.2:n.3138C>T (SETD6)
XR_933436.2:n.3350C>T (SETD6)
XR_933437.3:n.3189C>T (SETD6)