Canonical Allele Identifier: CA209591414
Community Standard Title: NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)
Gene: FAM149B1 HGNC NCBI
DNAJC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73234866C>T , CM000672.2:g.73234866C>T GRCh38
NC_000010.10:g.74994624C>T , CM000672.1:g.74994624C>T GRCh37
NC_000010.9:g.74664630C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173348.2:c.1402C>T (FAM149B1) MANE Select NP_775483.1:p.Arg468Ter
ENST00000242505.11:c.1402C>T (FAM149B1) MANE Select ENSP00000242505.6:p.Arg468Ter
NM_173348.1:c.1402C>T (FAM149B1) NP_775483.1:p.Arg468Ter
ENST00000242505.10:c.1402C>T (FAM149B1) ENSP00000242505.6:p.Arg468Ter
ENST00000372955.7:c.1200C>T (FAM149B1)
ENST00000445951.5:c.787C>T (FAM149B1) ENSP00000402293.1:p.Arg263Ter
ENST00000466261.1:n.505C>T (FAM149B1)
ENST00000468462.1:n.759C>T (FAM149B1)
ENST00000469143.1:n.147+8977G>A (DNAJC9)
ENST00000470798.5:n.128C>T (FAM149B1)
ENST00000475829.5:c.710C>T (FAM149B1) ENSP00000476913.1:n.710C>T
XM_005269744.2:c.1378C>T (FAM149B1) XP_005269801.1:p.Arg460Ter
XM_005269745.2:c.1402C>T (FAM149B1) XP_005269802.1:p.Arg468Ter
XM_005269746.2:c.1378C>T (FAM149B1) XP_005269803.1:p.Arg460Ter
XM_005269747.2:c.913C>T (FAM149B1) XP_005269804.1:p.Arg305Ter
XM_005269747.3:c.913C>T (FAM149B1) XP_005269804.1:p.Arg305Ter
XM_011539737.1:c.1336C>T (FAM149B1) XP_011538039.1:p.Arg446Ter
XM_011539737.2:c.1336C>T (FAM149B1) XP_011538039.1:p.Arg446Ter
XM_011539738.1:c.1402C>T (FAM149B1) XP_011538040.1:p.Arg468Ter
XM_011539739.1:c.1084C>T (FAM149B1) XP_011538041.1:p.Arg362Ter
XM_017016164.1:c.1336C>T (FAM149B1) XP_016871653.1:p.Arg446Ter
XM_017016165.1:c.1084C>T (FAM149B1) XP_016871654.1:p.Arg362Ter
XM_017016166.1:c.913C>T (FAM149B1) XP_016871655.1:p.Arg305Ter
XM_024447970.1:c.913C>T (FAM149B1) XP_024303738.1:p.Arg305Ter
XR_945712.1:n.1657C>T (FAM149B1)
XR_945713.1:n.1633C>T (FAM149B1)
XR_945714.2:n.1687C>T (FAM149B1)