Canonical Allele Identifier: CA60997402
Community Standard Title: NM_173648.4(CCDC141):c.1900-1230G>A
Gene: CCDC141 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178873542C>T , CM000664.2:g.178873542C>T GRCh38
NC_000002.11:g.179738269C>T , CM000664.1:g.179738269C>T GRCh37
NC_000002.10:g.179446514C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173648.4:c.1900-1230G>A MANE Select NP_775919.3:n.1900-1230G>A
ENST00000443758.7:c.1900-1230G>A MANE Select ENSP00000390190.2:n.1900-1230G>A
NM_001316745.1:c.*4362G>A NP_001303674.1:n.*4362G>A
NM_001316745.2:c.*4362G>A NP_001303674.1:n.*4362G>A
NM_173648.3:c.1900-1230G>A NP_775919.3:n.1900-1230G>A
ENST00000343876.6:c.232-1230G>A ENSP00000344627.2:n.232-1230G>A
ENST00000409284.1:c.*4362G>A ENSP00000386503.1:n.*4362G>A
ENST00000420890.6:c.1900-1230G>A ENSP00000395995.2:n.1900-1230G>A
ENST00000443758.5:c.1900-1230G>A ENSP00000390190.1:n.1900-1230G>A
ENST00000443758.6:c.1900-1230G>A ENSP00000390190.2:n.1900-1230G>A
ENST00000446116.5:c.1705-1230G>A ENSP00000388745.1:n.1705-1230G>A
XM_011510991.1:c.1900-1230G>A XP_011509293.1:n.1900-1230G>A
XM_011510991.3:c.1900-1230G>A XP_011509293.1:n.1900-1230G>A
XM_011510992.1:c.1900-1230G>A XP_011509294.1:n.1900-1230G>A
XM_011510992.3:c.1900-1230G>A XP_011509294.1:n.1900-1230G>A
XM_011510993.1:c.1720-1230G>A XP_011509295.1:n.1720-1230G>A
XM_011510993.3:c.1720-1230G>A XP_011509295.1:n.1720-1230G>A
XM_011510994.1:c.-46+1181G>A XP_011509296.1:n.-46+1181G>A
XM_017003867.2:c.1900-1230G>A XP_016859356.1:n.1900-1230G>A
XM_017003868.2:c.1900-1230G>A XP_016859357.1:n.1900-1230G>A
XM_017003869.2:c.1900-1230G>A XP_016859358.1:n.1900-1230G>A
XM_017003870.2:c.610-1230G>A XP_016859359.1:n.610-1230G>A
XM_017003871.1:c.-46+1181G>A XP_016859360.1:n.-46+1181G>A
XR_001738715.2:n.2089-1230G>A
XR_923628.1:n.1353-32472C>T