Canonical Allele Identifier: CA392162232

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600660T>G , CM000677.2:g.43600660T>G GRCh38
NC_000015.9:g.43892858T>G , CM000677.1:g.43892858T>G GRCh37
NC_000015.8:g.41680150T>G NCBI36
NG_011636.1:g.23141A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4867A>C (STRC) MANE Select ENSP00000401513.2:p.Thr1623Pro
ENST00000411560.1:n.142+1127T>G (CKMT1B)
ENST00000428650.5:c.*1900A>C (STRC) ENSP00000415991.1:n.*1900A>C
ENST00000440125.5:c.*2659A>C (STRC) ENSP00000394866.1:n.*2659A>C
ENST00000448437.6:n.1987A>C (STRC)
ENST00000450892.6:c.4867A>C (STRC) ENSP00000401513.2:p.Thr1623Pro
ENST00000460952.1:n.446A>C (STRC)
ENST00000471703.5:n.2821A>C (STRC)
ENST00000485556.5:n.3722A>C (STRC)
ENST00000541030.5:c.2548A>C (STRC) ENSP00000440413.1:p.Thr850Pro
NM_153700.2:c.4867A>C (STRC) MANE Select NP_714544.1:p.Thr1623Pro
XM_011521277.1:c.5356A>C (STRC) XP_011519579.1:p.Thr1786Pro
XM_011521278.1:c.4972A>C (STRC) XP_011519580.1:p.Thr1658Pro
XM_011521279.1:c.4972A>C (STRC) XP_011519581.1:p.Thr1658Pro