Canonical Allele Identifier: CA392162774

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600919A>C , CM000677.2:g.43600919A>C GRCh38
NC_000015.9:g.43893117A>C , CM000677.1:g.43893117A>C GRCh37
NC_000015.8:g.41680409A>C NCBI36
NG_011636.1:g.22882T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4797T>G (STRC) MANE Select ENSP00000401513.2:p.Cys1599Trp
ENST00000411560.1:n.142+1386A>C (CKMT1B)
ENST00000428650.5:c.*1830T>G (STRC) ENSP00000415991.1:n.*1830T>G
ENST00000440125.5:c.*2589T>G (STRC) ENSP00000394866.1:n.*2589T>G
ENST00000448437.6:n.1917T>G (STRC)
ENST00000450892.6:c.4797T>G (STRC) ENSP00000401513.2:p.Cys1599Trp
ENST00000460952.1:n.376T>G (STRC)
ENST00000471703.5:n.2751T>G (STRC)
ENST00000485556.5:n.3652T>G (STRC)
ENST00000541030.5:c.2478T>G (STRC) ENSP00000440413.1:p.Cys826Trp
NM_153700.2:c.4797T>G (STRC) MANE Select NP_714544.1:p.Cys1599Trp
XM_011521277.1:c.5286T>G (STRC) XP_011519579.1:p.Cys1762Trp
XM_011521278.1:c.4902T>G (STRC) XP_011519580.1:p.Cys1634Trp
XM_011521279.1:c.4902T>G (STRC) XP_011519581.1:p.Cys1634Trp