Canonical Allele Identifier: CA346986158
Community Standard Title: NM_001201543.2(FAM161A):c.1610T>A (p.Leu537Ter)
Gene: FAM161A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61838679A>T , CM000664.2:g.61838679A>T GRCh38
NC_000002.11:g.62065814A>T , CM000664.1:g.62065814A>T GRCh37
NC_000002.10:g.61919318A>T NCBI36
NG_028125.1:g.20465T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001201543.2:c.1610T>A MANE Select NP_001188472.1:p.Leu537Ter
ENST00000404929.6:c.1610T>A MANE Select ENSP00000385158.1:p.Leu537Ter
NM_001201543.1:c.1610T>A NP_001188472.1:p.Leu537Ter
NM_032180.2:c.1583+742T>A NP_115556.2:n.1583+742T>A
NM_032180.3:c.1583+742T>A NP_115556.2:n.1583+742T>A
NR_037710.1:n.1629+742T>A
NR_037710.2:n.1546+742T>A
ENST00000307507.3:c.*1593+742T>A ENSP00000303170.3:n.*1593+742T>A
ENST00000404929.5:c.1610T>A ENSP00000385158.1:p.Leu537Ter
ENST00000405894.3:c.1583+742T>A ENSP00000385893.3:n.1583+742T>A
ENST00000418113.5:c.1597T>A
ENST00000456262.5:c.*1098+742T>A ENSP00000396105.1:n.*1098+742T>A
ENST00000496369.1:n.104+742T>A
XM_017005072.1:c.1256+742T>A XP_016860561.1:n.1256+742T>A
XM_017005073.1:c.1040T>A XP_016860562.1:p.Leu347Ter
XM_017005074.1:c.1013+742T>A XP_016860563.1:n.1013+742T>A
XR_001738972.2:n.1611T>A
XR_001738973.2:n.1584+742T>A
XR_001738974.2:n.1611T>A
XR_001738975.2:n.1611T>A
XR_001738976.1:n.1639T>A
XR_001738977.1:n.1612+742T>A
XR_939724.1:n.2971T>A