Canonical Allele Identifier: CA369373694
Community Standard Title: NM_001164665.2(KIAA1549):c.4686C>G (p.His1562Gln)
Gene: KIAA1549 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138869627G>C , CM000669.2:g.138869627G>C GRCh38
NC_000007.13:g.138554373G>C , CM000669.1:g.138554373G>C GRCh37
NC_000007.12:g.138204913G>C NCBI36
NG_032965.1:g.116692C>G
NG_032965.2:g.116692C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001164665.2:c.4686C>G MANE Select NP_001158137.1:p.His1562Gln
ENST00000422774.2:c.4686C>G MANE Select ENSP00000416040.2:p.His1562Gln
NM_001164665.1:c.4686C>G NP_001158137.1:p.His1562Gln
NM_020910.2:c.4686C>G NP_065961.2:p.His1562Gln
NM_020910.3:c.4686C>G NP_065961.2:p.His1562Gln
ENST00000422774.1:c.4686C>G ENSP00000416040.1:p.His1562Gln
ENST00000440172.5:c.4686C>G ENSP00000406661.1:p.His1562Gln
XM_011516442.1:c.4605C>G XP_011514744.1:p.His1535Gln
XM_011516442.2:c.4605C>G XP_011514744.1:p.His1535Gln