Canonical Allele Identifier: CA392160040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600560A>C , CM000677.2:g.43600560A>C GRCh38
NC_000015.9:g.43892758A>C , CM000677.1:g.43892758A>C GRCh37
NC_000015.8:g.41680050A>C NCBI36
NG_011636.1:g.23241T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4967T>G (STRC) MANE Select ENSP00000401513.2:p.Ile1656Ser
ENST00000411560.1:n.142+1027A>C (CKMT1B)
ENST00000428650.5:c.*2000T>G (STRC) ENSP00000415991.1:n.*2000T>G
ENST00000440125.5:c.*2759T>G (STRC) ENSP00000394866.1:n.*2759T>G
ENST00000448437.6:n.2087T>G (STRC)
ENST00000450892.6:c.4967T>G (STRC) ENSP00000401513.2:p.Ile1656Ser
ENST00000471703.5:n.2921T>G (STRC)
ENST00000485556.5:n.3822T>G (STRC)
ENST00000541030.5:c.2648T>G (STRC) ENSP00000440413.1:p.Ile883Ser
NM_153700.2:c.4967T>G (STRC) MANE Select NP_714544.1:p.Ile1656Ser
XM_011521277.1:c.5456T>G (STRC) XP_011519579.1:p.Ile1819Ser
XM_011521278.1:c.5072T>G (STRC) XP_011519580.1:p.Ile1691Ser
XM_011521279.1:c.5072T>G (STRC) XP_011519581.1:p.Ile1691Ser