Canonical Allele Identifier: CA392163930

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601496A>G , CM000677.2:g.43601496A>G GRCh38
NC_000015.9:g.43893694A>G , CM000677.1:g.43893694A>G GRCh37
NC_000015.8:g.41680986A>G NCBI36
NG_011636.1:g.22305T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4601T>C (STRC) MANE Select ENSP00000401513.2:p.Leu1534Pro
ENST00000411560.1:n.142+1963A>G (CKMT1B)
ENST00000428650.5:c.*1634T>C (STRC) ENSP00000415991.1:n.*1634T>C
ENST00000440125.5:c.*2393T>C (STRC) ENSP00000394866.1:n.*2393T>C
ENST00000448437.6:n.1721T>C (STRC)
ENST00000450892.6:c.4601T>C (STRC) ENSP00000401513.2:p.Leu1534Pro
ENST00000460952.1:n.180T>C (STRC)
ENST00000471703.5:n.2555T>C (STRC)
ENST00000485556.5:n.3456T>C (STRC)
ENST00000493750.1:n.397T>C (STRC)
ENST00000541030.5:c.2282T>C (STRC) ENSP00000440413.1:p.Leu761Pro
NM_153700.2:c.4601T>C (STRC) MANE Select NP_714544.1:p.Leu1534Pro
XM_011521277.1:c.5090T>C (STRC) XP_011519579.1:p.Leu1697Pro
XM_011521278.1:c.4706T>C (STRC) XP_011519580.1:p.Leu1569Pro
XM_011521279.1:c.4706T>C (STRC) XP_011519581.1:p.Leu1569Pro