Canonical Allele Identifier: CA7527885

Linked Data

dbSNP Id: rs772670595

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600881C>T , CM000677.2:g.43600881C>T GRCh38
NC_000015.9:g.43893079C>T , CM000677.1:g.43893079C>T GRCh37
NC_000015.8:g.41680371C>T NCBI36
NG_011636.1:g.22920G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4835G>A (STRC) MANE Select ENSP00000401513.2:p.Trp1612Ter
ENST00000411560.1:n.142+1348C>T (CKMT1B)
ENST00000428650.5:c.*1868G>A (STRC) ENSP00000415991.1:n.*1868G>A
ENST00000440125.5:c.*2627G>A (STRC) ENSP00000394866.1:n.*2627G>A
ENST00000448437.6:n.1955G>A (STRC)
ENST00000450892.6:c.4835G>A (STRC) ENSP00000401513.2:p.Trp1612Ter
ENST00000460952.1:n.414G>A (STRC)
ENST00000471703.5:n.2789G>A (STRC)
ENST00000485556.5:n.3690G>A (STRC)
ENST00000541030.5:c.2516G>A (STRC) ENSP00000440413.1:p.Trp839Ter
NM_153700.2:c.4835G>A (STRC) MANE Select NP_714544.1:p.Trp1612Ter
XM_011521277.1:c.5324G>A (STRC) XP_011519579.1:p.Trp1775Ter
XM_011521278.1:c.4940G>A (STRC) XP_011519580.1:p.Trp1647Ter
XM_011521279.1:c.4940G>A (STRC) XP_011519581.1:p.Trp1647Ter