Canonical Allele Identifier: CA392160635

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600624C>T , CM000677.2:g.43600624C>T GRCh38
NC_000015.9:g.43892822C>T , CM000677.1:g.43892822C>T GRCh37
NC_000015.8:g.41680114C>T NCBI36
NG_011636.1:g.23177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4903G>A (STRC) MANE Select ENSP00000401513.2:p.Val1635Ile
ENST00000411560.1:n.142+1091C>T (CKMT1B)
ENST00000428650.5:c.*1936G>A (STRC) ENSP00000415991.1:n.*1936G>A
ENST00000440125.5:c.*2695G>A (STRC) ENSP00000394866.1:n.*2695G>A
ENST00000448437.6:n.2023G>A (STRC)
ENST00000450892.6:c.4903G>A (STRC) ENSP00000401513.2:p.Val1635Ile
ENST00000460952.1:n.482G>A (STRC)
ENST00000471703.5:n.2857G>A (STRC)
ENST00000485556.5:n.3758G>A (STRC)
ENST00000541030.5:c.2584G>A (STRC) ENSP00000440413.1:p.Val862Ile
NM_153700.2:c.4903G>A (STRC) MANE Select NP_714544.1:p.Val1635Ile
XM_011521277.1:c.5392G>A (STRC) XP_011519579.1:p.Val1798Ile
XM_011521278.1:c.5008G>A (STRC) XP_011519580.1:p.Val1670Ile
XM_011521279.1:c.5008G>A (STRC) XP_011519581.1:p.Val1670Ile