Canonical Allele Identifier: CA4505977
Community Standard Title: NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)
Gene: KIAA1549 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138881403A>G , CM000669.2:g.138881403A>G GRCh38
NC_000007.13:g.138566149A>G , CM000669.1:g.138566149A>G GRCh37
NC_000007.12:g.138216689A>G NCBI36
NG_032965.1:g.104916T>C
NG_032965.2:g.104916T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001164665.2:c.4214T>C MANE Select NP_001158137.1:p.Val1405Ala
ENST00000422774.2:c.4214T>C MANE Select ENSP00000416040.2:p.Val1405Ala
NM_001164665.1:c.4214T>C NP_001158137.1:p.Val1405Ala
NM_020910.2:c.4214T>C NP_065961.2:p.Val1405Ala
NM_020910.3:c.4214T>C NP_065961.2:p.Val1405Ala
ENST00000422774.1:c.4214T>C ENSP00000416040.1:p.Val1405Ala
ENST00000440172.5:c.4214T>C ENSP00000406661.1:p.Val1405Ala
XM_011516442.1:c.4133T>C XP_011514744.1:p.Val1378Ala
XM_011516442.2:c.4133T>C XP_011514744.1:p.Val1378Ala