Canonical Allele Identifier: CA392168777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604728C>A , CM000677.2:g.43604728C>A GRCh38
NC_000015.9:g.43896926C>A , CM000677.1:g.43896926C>A GRCh37
NC_000015.8:g.41684218C>A NCBI36
NG_011636.1:g.19073G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4049G>T (STRC) MANE Select ENSP00000401513.2:p.Ser1350Ile
ENST00000411560.1:n.143-56C>A (CKMT1B)
ENST00000428650.5:c.*1252G>T (STRC) ENSP00000415991.1:n.*1252G>T
ENST00000440125.5:c.*1841G>T (STRC) ENSP00000394866.1:n.*1841G>T
ENST00000448437.6:n.1665+3135G>T (STRC)
ENST00000450892.6:c.4049G>T (STRC) ENSP00000401513.2:p.Ser1350Ile
ENST00000455136.5:c.1080G>T (STRC)
ENST00000471703.5:n.2003G>T (STRC)
ENST00000485556.5:n.2904G>T (STRC)
ENST00000541030.5:c.1730G>T (STRC) ENSP00000440413.1:p.Ser577Ile
NM_153700.2:c.4049G>T (STRC) MANE Select NP_714544.1:p.Ser1350Ile
XM_011521277.1:c.4538G>T (STRC) XP_011519579.1:p.Ser1513Ile
XM_011521278.1:c.4154G>T (STRC) XP_011519580.1:p.Ser1385Ile
XM_011521279.1:c.4154G>T (STRC) XP_011519581.1:p.Ser1385Ile