Canonical Allele Identifier: CA1679032
Community Standard Title: NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln)
Gene: FAM161A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61836074C>T , CM000664.2:g.61836074C>T GRCh38
NC_000002.11:g.62063209C>T , CM000664.1:g.62063209C>T GRCh37
NC_000002.10:g.61916713C>T NCBI36
NG_028125.1:g.23070G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001201543.2:c.1787G>A MANE Select NP_001188472.1:p.Arg596Gln
ENST00000404929.6:c.1787G>A MANE Select ENSP00000385158.1:p.Arg596Gln
NM_001201543.1:c.1787G>A NP_001188472.1:p.Arg596Gln
NM_032180.2:c.1619G>A NP_115556.2:p.Arg540Gln
NM_032180.3:c.1619G>A NP_115556.2:p.Arg540Gln
NR_037710.1:n.1665G>A
NR_037710.2:n.1582G>A
ENST00000307507.3:c.*1629G>A ENSP00000303170.3:n.*1629G>A
ENST00000404929.5:c.1787G>A ENSP00000385158.1:p.Arg596Gln
ENST00000405894.3:c.1619G>A ENSP00000385893.3:p.Arg540Gln
ENST00000418113.5:c.2064G>A
ENST00000456262.5:c.*1134G>A ENSP00000396105.1:n.*1134G>A
ENST00000478494.1:n.411G>A
ENST00000496369.1:n.140G>A
XM_017005072.1:c.1292G>A XP_016860561.1:p.Arg431Gln
XM_017005073.1:c.1217G>A XP_016860562.1:p.Arg406Gln
XM_017005074.1:c.1049G>A XP_016860563.1:p.Arg350Gln
XR_001738972.2:n.1788G>A
XR_001738973.2:n.1620G>A
XR_001738974.2:n.1788G>A
XR_001738975.2:n.2381G>A
XR_001738976.1:n.1816G>A
XR_001738977.1:n.1648G>A
XR_939724.1:n.3148G>A