Canonical Allele Identifier: CA369374482
Community Standard Title: NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)
Gene: KIAA1549 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138871189G>A , CM000669.2:g.138871189G>A GRCh38
NC_000007.13:g.138555935G>A , CM000669.1:g.138555935G>A GRCh37
NC_000007.12:g.138206475G>A NCBI36
NG_032965.1:g.115130C>T
NG_032965.2:g.115130C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001164665.2:c.4519C>T MANE Select NP_001158137.1:p.Arg1507Ter
ENST00000422774.2:c.4519C>T MANE Select ENSP00000416040.2:p.Arg1507Ter
NM_001164665.1:c.4519C>T NP_001158137.1:p.Arg1507Ter
NM_020910.2:c.4519C>T NP_065961.2:p.Arg1507Ter
NM_020910.3:c.4519C>T NP_065961.2:p.Arg1507Ter
ENST00000422774.1:c.4519C>T ENSP00000416040.1:p.Arg1507Ter
ENST00000440172.5:c.4519C>T ENSP00000406661.1:p.Arg1507Ter
XM_011516442.1:c.4438C>T XP_011514744.1:p.Arg1480Ter
XM_011516442.2:c.4438C>T XP_011514744.1:p.Arg1480Ter