Canonical Allele Identifier: CA392163488

Linked Data

dbSNP Id: rs762262248

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601416C>T , CM000677.2:g.43601416C>T GRCh38
NC_000015.9:g.43893614C>T , CM000677.1:g.43893614C>T GRCh37
NC_000015.8:g.41680906C>T NCBI36
NG_011636.1:g.22385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4681G>A (STRC) MANE Select ENSP00000401513.2:p.Asp1561Asn
ENST00000411560.1:n.142+1883C>T (CKMT1B)
ENST00000428650.5:c.*1714G>A (STRC) ENSP00000415991.1:n.*1714G>A
ENST00000440125.5:c.*2473G>A (STRC) ENSP00000394866.1:n.*2473G>A
ENST00000448437.6:n.1801G>A (STRC)
ENST00000450892.6:c.4681G>A (STRC) ENSP00000401513.2:p.Asp1561Asn
ENST00000460952.1:n.260G>A (STRC)
ENST00000471703.5:n.2635G>A (STRC)
ENST00000485556.5:n.3536G>A (STRC)
ENST00000493750.1:n.477G>A (STRC)
ENST00000541030.5:c.2362G>A (STRC) ENSP00000440413.1:p.Asp788Asn
NM_153700.2:c.4681G>A (STRC) MANE Select NP_714544.1:p.Asp1561Asn
XM_011521277.1:c.5170G>A (STRC) XP_011519579.1:p.Asp1724Asn
XM_011521278.1:c.4786G>A (STRC) XP_011519580.1:p.Asp1596Asn
XM_011521279.1:c.4786G>A (STRC) XP_011519581.1:p.Asp1596Asn