Canonical Allele Identifier: CA392162217

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600656A>T , CM000677.2:g.43600656A>T GRCh38
NC_000015.9:g.43892854A>T , CM000677.1:g.43892854A>T GRCh37
NC_000015.8:g.41680146A>T NCBI36
NG_011636.1:g.23145T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4871T>A (STRC) MANE Select ENSP00000401513.2:p.Leu1624Gln
ENST00000411560.1:n.142+1123A>T (CKMT1B)
ENST00000428650.5:c.*1904T>A (STRC) ENSP00000415991.1:n.*1904T>A
ENST00000440125.5:c.*2663T>A (STRC) ENSP00000394866.1:n.*2663T>A
ENST00000448437.6:n.1991T>A (STRC)
ENST00000450892.6:c.4871T>A (STRC) ENSP00000401513.2:p.Leu1624Gln
ENST00000460952.1:n.450T>A (STRC)
ENST00000471703.5:n.2825T>A (STRC)
ENST00000485556.5:n.3726T>A (STRC)
ENST00000541030.5:c.2552T>A (STRC) ENSP00000440413.1:p.Leu851Gln
NM_153700.2:c.4871T>A (STRC) MANE Select NP_714544.1:p.Leu1624Gln
XM_011521277.1:c.5360T>A (STRC) XP_011519579.1:p.Leu1787Gln
XM_011521278.1:c.4976T>A (STRC) XP_011519580.1:p.Leu1659Gln
XM_011521279.1:c.4976T>A (STRC) XP_011519581.1:p.Leu1659Gln