Canonical Allele Identifier: CA413821728
Community Standard Title: NM_017752.3(TBC1D8B):c.620A>T (p.Lys207Ile)
Gene: TBC1D8B HGNC NCBI
MORC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106823259A>T , CM000685.2:g.106823259A>T GRCh38
NC_000023.10:g.106066489A>T , CM000685.1:g.106066489A>T GRCh37
NC_000023.9:g.105953145A>T NCBI36
NG_021284.1:g.25571A>T

Transcript Alleles

HGVS Amino-acid Change
NM_017752.3:c.620A>T (TBC1D8B) MANE Select NP_060222.2:p.Lys207Ile
ENST00000357242.10:c.620A>T (TBC1D8B) MANE Select ENSP00000349781.5:p.Lys207Ile
NM_017752.2:c.620A>T (TBC1D8B) NP_060222.2:p.Lys207Ile
NM_198881.1:c.620A>T (TBC1D8B) NP_942582.1:p.Lys207Ile
NM_198881.2:c.620A>T (TBC1D8B) NP_942582.1:p.Lys207Ile
ENST00000276175.7:c.620A>T (TBC1D8B) ENSP00000276175.3:p.Lys207Ile
ENST00000310452.6:c.620A>T (TBC1D8B) ENSP00000310675.2:p.Lys207Ile
ENST00000357242.9:c.620A>T (TBC1D8B) ENSP00000349781.5:p.Lys207Ile
ENST00000481617.6:c.620A>T (TBC1D8B) ENSP00000421375.1:p.Lys207Ile
ENST00000604604.1:c.112-7473T>A (MORC4)
XM_006724669.1:c.620A>T (TBC1D8B) XP_006724732.1:p.Lys207Ile
XM_006724670.2:c.326A>T (TBC1D8B) XP_006724733.1:p.Lys109Ile
XM_006724670.4:c.326A>T (TBC1D8B) XP_006724733.1:p.Lys109Ile
XR_001755701.1:n.785A>T (TBC1D8B)