Canonical Allele Identifier: CA392164115

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601532C>G , CM000677.2:g.43601532C>G GRCh38
NC_000015.9:g.43893730C>G , CM000677.1:g.43893730C>G GRCh37
NC_000015.8:g.41681022C>G NCBI36
NG_011636.1:g.22269G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4565G>C (STRC) MANE Select ENSP00000401513.2:p.Gly1522Ala
ENST00000411560.1:n.142+1999C>G (CKMT1B)
ENST00000428650.5:c.*1598G>C (STRC) ENSP00000415991.1:n.*1598G>C
ENST00000440125.5:c.*2357G>C (STRC) ENSP00000394866.1:n.*2357G>C
ENST00000448437.6:n.1685G>C (STRC)
ENST00000450892.6:c.4565G>C (STRC) ENSP00000401513.2:p.Gly1522Ala
ENST00000460952.1:n.144G>C (STRC)
ENST00000471703.5:n.2519G>C (STRC)
ENST00000485556.5:n.3420G>C (STRC)
ENST00000493750.1:n.361G>C (STRC)
ENST00000541030.5:c.2246G>C (STRC) ENSP00000440413.1:p.Gly749Ala
NM_153700.2:c.4565G>C (STRC) MANE Select NP_714544.1:p.Gly1522Ala
XM_011521277.1:c.5054G>C (STRC) XP_011519579.1:p.Gly1685Ala
XM_011521278.1:c.4670G>C (STRC) XP_011519580.1:p.Gly1557Ala
XM_011521279.1:c.4670G>C (STRC) XP_011519581.1:p.Gly1557Ala