Canonical Allele Identifier: CA13364694
Community Standard Title: NM_015634.4(KIFBP):c.991-216T>C
Gene: KIFBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69015325T>C , CM000672.2:g.69015325T>C GRCh38
NC_000010.10:g.70775081T>C , CM000672.1:g.70775081T>C GRCh37
NC_000010.9:g.70445087T>C NCBI36
NG_017061.1:g.31605T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015634.4:c.991-216T>C MANE Select NP_056449.1:n.991-216T>C
ENST00000361983.7:c.991-216T>C MANE Select ENSP00000354848.4:n.991-216T>C
NM_015634.3:c.991-216T>C NP_056449.1:n.991-216T>C
ENST00000361983.6:c.991-216T>C ENSP00000354848.4:n.991-216T>C
ENST00000626493.1:c.875-216T>C ENSP00000486692.1:n.875-216T>C
ENST00000626493.2:c.875-216T>C ENSP00000486692.1:n.875-216T>C
ENST00000627949.2:n.476-216T>C
ENST00000627949.4:n.622-216T>C
ENST00000635779.2:c.*312-216T>C ENSP00000489663.1:n.*312-216T>C
ENST00000635971.2:c.789+9410T>C ENSP00000489878.2:n.789+9410T>C
ENST00000636200.2:c.990+4310T>C ENSP00000490113.2:n.990+4310T>C
ENST00000637101.2:c.*564-216T>C ENSP00000490704.1:n.*564-216T>C
ENST00000637104.2:c.*560-216T>C ENSP00000490019.2:n.*560-216T>C
ENST00000637323.2:c.*632-216T>C ENSP00000489659.2:n.*632-216T>C
ENST00000637420.2:c.*266-33T>C ENSP00000490404.2:n.*266-33T>C
ENST00000637738.2:c.*266-216T>C ENSP00000490742.2:n.*266-216T>C
ENST00000638119.2:c.1066-216T>C ENSP00000490026.1:n.1066-216T>C
ENST00000674660.1:c.940-216T>C ENSP00000502562.1:n.940-216T>C
ENST00000674688.1:n.2857-216T>C
ENST00000674897.1:c.475-216T>C ENSP00000502225.1:n.475-216T>C
ENST00000674936.1:c.606-216T>C ENSP00000502484.1:n.606-216T>C
ENST00000675576.1:c.892-216T>C ENSP00000502750.1:n.892-216T>C
ENST00000676080.1:c.*504-216T>C ENSP00000502706.1:n.*504-216T>C
XM_017016067.1:c.193-216T>C XP_016871556.1:n.193-216T>C