Canonical Allele Identifier: CA392163168

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600993A>G , CM000677.2:g.43600993A>G GRCh38
NC_000015.9:g.43893191A>G , CM000677.1:g.43893191A>G GRCh37
NC_000015.8:g.41680483A>G NCBI36
NG_011636.1:g.22808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4723T>C (STRC) MANE Select ENSP00000401513.2:p.Phe1575Leu
ENST00000411560.1:n.142+1460A>G (CKMT1B)
ENST00000428650.5:c.*1756T>C (STRC) ENSP00000415991.1:n.*1756T>C
ENST00000440125.5:c.*2515T>C (STRC) ENSP00000394866.1:n.*2515T>C
ENST00000448437.6:n.1843T>C (STRC)
ENST00000450892.6:c.4723T>C (STRC) ENSP00000401513.2:p.Phe1575Leu
ENST00000460952.1:n.302T>C (STRC)
ENST00000471703.5:n.2677T>C (STRC)
ENST00000485556.5:n.3578T>C (STRC)
ENST00000541030.5:c.2404T>C (STRC) ENSP00000440413.1:p.Phe802Leu
NM_153700.2:c.4723T>C (STRC) MANE Select NP_714544.1:p.Phe1575Leu
XM_011521277.1:c.5212T>C (STRC) XP_011519579.1:p.Phe1738Leu
XM_011521278.1:c.4828T>C (STRC) XP_011519580.1:p.Phe1610Leu
XM_011521279.1:c.4828T>C (STRC) XP_011519581.1:p.Phe1610Leu