Canonical Allele Identifier: CA377189454
Community Standard Title: NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter)
Gene: FAM149B1 HGNC NCBI
DNAJC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73193490C>T , CM000672.2:g.73193490C>T GRCh38
NC_000010.10:g.74953248C>T , CM000672.1:g.74953248C>T GRCh37
NC_000010.9:g.74623254C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173348.2:c.439C>T (FAM149B1) MANE Select NP_775483.1:p.Gln147Ter
ENST00000242505.11:c.439C>T (FAM149B1) MANE Select ENSP00000242505.6:p.Gln147Ter
NM_173348.1:c.439C>T (FAM149B1) NP_775483.1:p.Gln147Ter
ENST00000242505.10:c.439C>T (FAM149B1) ENSP00000242505.6:p.Gln147Ter
ENST00000372955.7:c.261C>T (FAM149B1)
ENST00000469143.1:n.148-9914G>A (DNAJC9)
XM_005269744.2:c.439C>T (FAM149B1) XP_005269801.1:p.Gln147Ter
XM_005269745.2:c.439C>T (FAM149B1) XP_005269802.1:p.Gln147Ter
XM_005269746.2:c.439C>T (FAM149B1) XP_005269803.1:p.Gln147Ter
XM_005269747.2:c.-67C>T (FAM149B1) XP_005269804.1:n.-67C>T
XM_005269747.3:c.-67C>T (FAM149B1) XP_005269804.1:n.-67C>T
XM_011539737.1:c.373C>T (FAM149B1) XP_011538039.1:p.Gln125Ter
XM_011539737.2:c.373C>T (FAM149B1) XP_011538039.1:p.Gln125Ter
XM_011539738.1:c.439C>T (FAM149B1) XP_011538040.1:p.Gln147Ter
XM_011539739.1:c.121C>T (FAM149B1) XP_011538041.1:p.Gln41Ter
XM_011539740.1:c.439C>T (FAM149B1) XP_011538042.1:p.Gln147Ter
XM_011539740.2:c.439C>T (FAM149B1) XP_011538042.1:p.Gln147Ter
XM_011539741.1:c.439C>T (FAM149B1) XP_011538043.1:p.Gln147Ter
XM_017016164.1:c.373C>T (FAM149B1) XP_016871653.1:p.Gln125Ter
XM_017016165.1:c.121C>T (FAM149B1) XP_016871654.1:p.Gln41Ter
XM_017016166.1:c.-67C>T (FAM149B1) XP_016871655.1:n.-67C>T
XM_017016167.1:c.439C>T (FAM149B1) XP_016871656.1:p.Gln147Ter
XM_024447970.1:c.-67C>T (FAM149B1) XP_024303738.1:n.-67C>T
XR_001747096.1:n.641C>T (FAM149B1)
XR_945712.1:n.660C>T (FAM149B1)
XR_945713.1:n.660C>T (FAM149B1)
XR_945714.1:n.660C>T (FAM149B1)
XR_945714.2:n.660C>T (FAM149B1)
XR_946060.1:n.55-9914G>A