Canonical Allele Identifier: CA392167846

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604370C>G , CM000677.2:g.43604370C>G GRCh38
NC_000015.9:g.43896568C>G , CM000677.1:g.43896568C>G GRCh37
NC_000015.8:g.41683860C>G NCBI36
NG_011636.1:g.19431G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4209G>C (STRC) MANE Select ENSP00000401513.2:p.Leu1403Phe
ENST00000411560.1:n.143-414C>G (CKMT1B)
ENST00000428650.5:c.*1412G>C (STRC) ENSP00000415991.1:n.*1412G>C
ENST00000440125.5:c.*2001G>C (STRC) ENSP00000394866.1:n.*2001G>C
ENST00000448437.6:n.1666-2819G>C (STRC)
ENST00000450892.6:c.4209G>C (STRC) ENSP00000401513.2:p.Leu1403Phe
ENST00000471703.5:n.2163G>C (STRC)
ENST00000485556.5:n.3064G>C (STRC)
ENST00000541030.5:c.1890G>C (STRC) ENSP00000440413.1:p.Leu630Phe
NM_153700.2:c.4209G>C (STRC) MANE Select NP_714544.1:p.Leu1403Phe
XM_011521277.1:c.4698G>C (STRC) XP_011519579.1:p.Leu1566Phe
XM_011521278.1:c.4314G>C (STRC) XP_011519580.1:p.Leu1438Phe
XM_011521279.1:c.4314G>C (STRC) XP_011519581.1:p.Leu1438Phe