Canonical Allele Identifier: CA346986086
Community Standard Title: NM_001201543.2(FAM161A):c.1642C>T (p.Gln548Ter)
Gene: FAM161A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61838647G>A , CM000664.2:g.61838647G>A GRCh38
NC_000002.11:g.62065782G>A , CM000664.1:g.62065782G>A GRCh37
NC_000002.10:g.61919286G>A NCBI36
NG_028125.1:g.20497C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001201543.2:c.1642C>T MANE Select NP_001188472.1:p.Gln548Ter
ENST00000404929.6:c.1642C>T MANE Select ENSP00000385158.1:p.Gln548Ter
NM_001201543.1:c.1642C>T NP_001188472.1:p.Gln548Ter
NM_032180.2:c.1583+774C>T NP_115556.2:n.1583+774C>T
NM_032180.3:c.1583+774C>T NP_115556.2:n.1583+774C>T
NR_037710.1:n.1629+774C>T
NR_037710.2:n.1546+774C>T
ENST00000307507.3:c.*1593+774C>T ENSP00000303170.3:n.*1593+774C>T
ENST00000404929.5:c.1642C>T ENSP00000385158.1:p.Gln548Ter
ENST00000405894.3:c.1583+774C>T ENSP00000385893.3:n.1583+774C>T
ENST00000418113.5:c.1629C>T
ENST00000456262.5:c.*1098+774C>T ENSP00000396105.1:n.*1098+774C>T
ENST00000496369.1:n.104+774C>T
XM_017005072.1:c.1256+774C>T XP_016860561.1:n.1256+774C>T
XM_017005073.1:c.1072C>T XP_016860562.1:p.Gln358Ter
XM_017005074.1:c.1013+774C>T XP_016860563.1:n.1013+774C>T
XR_001738972.2:n.1643C>T
XR_001738973.2:n.1584+774C>T
XR_001738974.2:n.1643C>T
XR_001738975.2:n.1643C>T
XR_001738976.1:n.1671C>T
XR_001738977.1:n.1612+774C>T
XR_939724.1:n.3003C>T