Canonical Allele Identifier: CA392162531

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600876A>G , CM000677.2:g.43600876A>G GRCh38
NC_000015.9:g.43893074A>G , CM000677.1:g.43893074A>G GRCh37
NC_000015.8:g.41680366A>G NCBI36
NG_011636.1:g.22925T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4840T>C (STRC) MANE Select ENSP00000401513.2:p.Phe1614Leu
ENST00000411560.1:n.142+1343A>G (CKMT1B)
ENST00000428650.5:c.*1873T>C (STRC) ENSP00000415991.1:n.*1873T>C
ENST00000440125.5:c.*2632T>C (STRC) ENSP00000394866.1:n.*2632T>C
ENST00000448437.6:n.1960T>C (STRC)
ENST00000450892.6:c.4840T>C (STRC) ENSP00000401513.2:p.Phe1614Leu
ENST00000460952.1:n.419T>C (STRC)
ENST00000471703.5:n.2794T>C (STRC)
ENST00000485556.5:n.3695T>C (STRC)
ENST00000541030.5:c.2521T>C (STRC) ENSP00000440413.1:p.Phe841Leu
NM_153700.2:c.4840T>C (STRC) MANE Select NP_714544.1:p.Phe1614Leu
XM_011521277.1:c.5329T>C (STRC) XP_011519579.1:p.Phe1777Leu
XM_011521278.1:c.4945T>C (STRC) XP_011519580.1:p.Phe1649Leu
XM_011521279.1:c.4945T>C (STRC) XP_011519581.1:p.Phe1649Leu