Canonical Allele Identifier: CA392160287

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600582T>A , CM000677.2:g.43600582T>A GRCh38
NC_000015.9:g.43892780T>A , CM000677.1:g.43892780T>A GRCh37
NC_000015.8:g.41680072T>A NCBI36
NG_011636.1:g.23219A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4945A>T (STRC) MANE Select ENSP00000401513.2:p.Ile1649Phe
ENST00000411560.1:n.142+1049T>A (CKMT1B)
ENST00000428650.5:c.*1978A>T (STRC) ENSP00000415991.1:n.*1978A>T
ENST00000440125.5:c.*2737A>T (STRC) ENSP00000394866.1:n.*2737A>T
ENST00000448437.6:n.2065A>T (STRC)
ENST00000450892.6:c.4945A>T (STRC) ENSP00000401513.2:p.Ile1649Phe
ENST00000460952.1:n.524A>T (STRC)
ENST00000471703.5:n.2899A>T (STRC)
ENST00000485556.5:n.3800A>T (STRC)
ENST00000541030.5:c.2626A>T (STRC) ENSP00000440413.1:p.Ile876Phe
NM_153700.2:c.4945A>T (STRC) MANE Select NP_714544.1:p.Ile1649Phe
XM_011521277.1:c.5434A>T (STRC) XP_011519579.1:p.Ile1812Phe
XM_011521278.1:c.5050A>T (STRC) XP_011519580.1:p.Ile1684Phe
XM_011521279.1:c.5050A>T (STRC) XP_011519581.1:p.Ile1684Phe