Canonical Allele Identifier: CA209591110
Community Standard Title: NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)
Gene: FAM149B1 HGNC NCBI
DNAJC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73232994C>T , CM000672.2:g.73232994C>T GRCh38
NC_000010.10:g.74992752C>T , CM000672.1:g.74992752C>T GRCh37
NC_000010.9:g.74662758C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173348.2:c.1183C>T (FAM149B1) MANE Select NP_775483.1:p.Arg395Ter
ENST00000242505.11:c.1183C>T (FAM149B1) MANE Select ENSP00000242505.6:p.Arg395Ter
NM_173348.1:c.1183C>T (FAM149B1) NP_775483.1:p.Arg395Ter
ENST00000242505.10:c.1183C>T (FAM149B1) ENSP00000242505.6:p.Arg395Ter
ENST00000372955.7:c.981C>T (FAM149B1)
ENST00000445951.5:c.568C>T (FAM149B1) ENSP00000402293.1:p.Arg190Ter
ENST00000466261.1:n.286C>T (FAM149B1)
ENST00000469143.1:n.147+10849G>A (DNAJC9)
ENST00000470798.5:n.79-1823C>T (FAM149B1)
ENST00000475829.5:c.457C>T (FAM149B1) ENSP00000476913.1:p.Arg153Ter
XM_005269744.2:c.1159C>T (FAM149B1) XP_005269801.1:p.Arg387Ter
XM_005269745.2:c.1183C>T (FAM149B1) XP_005269802.1:p.Arg395Ter
XM_005269746.2:c.1159C>T (FAM149B1) XP_005269803.1:p.Arg387Ter
XM_005269747.2:c.694C>T (FAM149B1) XP_005269804.1:p.Arg232Ter
XM_005269747.3:c.694C>T (FAM149B1) XP_005269804.1:p.Arg232Ter
XM_011539737.1:c.1117C>T (FAM149B1) XP_011538039.1:p.Arg373Ter
XM_011539737.2:c.1117C>T (FAM149B1) XP_011538039.1:p.Arg373Ter
XM_011539738.1:c.1183C>T (FAM149B1) XP_011538040.1:p.Arg395Ter
XM_011539739.1:c.865C>T (FAM149B1) XP_011538041.1:p.Arg289Ter
XM_017016164.1:c.1117C>T (FAM149B1) XP_016871653.1:p.Arg373Ter
XM_017016165.1:c.865C>T (FAM149B1) XP_016871654.1:p.Arg289Ter
XM_017016166.1:c.694C>T (FAM149B1) XP_016871655.1:p.Arg232Ter
XM_024447970.1:c.694C>T (FAM149B1) XP_024303738.1:p.Arg232Ter
XR_001747096.1:n.1449C>T (FAM149B1)
XR_945712.1:n.1404C>T (FAM149B1)
XR_945713.1:n.1380C>T (FAM149B1)
XR_945714.2:n.1468C>T (FAM149B1)
XR_946060.1:n.54+1796G>A