Canonical Allele Identifier: CA7728587
Community Standard Title: NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)
Gene: KIF7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89648608G>A , CM000677.2:g.89648608G>A GRCh38
NC_000015.9:g.90191839G>A , CM000677.1:g.90191839G>A GRCh37
NC_000015.8:g.87992843G>A NCBI36
NG_030338.1:g.11844C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198525.3:c.1090C>T MANE Select NP_940927.2:p.Pro364Ser
ENST00000394412.8:c.1090C>T MANE Select ENSP00000377934.3:p.Pro364Ser
NM_198525.2:c.1090C>T NP_940927.2:p.Pro364Ser
ENST00000394412.7:c.1090C>T ENSP00000377934.3:p.Pro364Ser
ENST00000445906.1:c.*749C>T ENSP00000395906.1:n.*749C>T
ENST00000696512.1:c.1213C>T ENSP00000512678.1:p.Pro405Ser
XM_005254902.2:c.1090C>T XP_005254959.1:p.Pro364Ser
XM_011521531.1:c.1213C>T XP_011519833.1:p.Pro405Ser
XM_011521531.2:c.1213C>T XP_011519833.1:p.Pro405Ser
XM_011521532.1:c.1213C>T XP_011519834.1:p.Pro405Ser
XM_011521533.1:c.1213C>T XP_011519835.1:p.Pro405Ser
XM_011521534.1:c.1213C>T XP_011519836.1:p.Pro405Ser
XM_011521535.1:c.1213C>T XP_011519837.1:p.Pro405Ser
XM_011521536.1:c.1213C>T XP_011519838.1:p.Pro405Ser
XM_011521537.1:c.1213C>T XP_011519839.1:p.Pro405Ser