Canonical Allele Identifier: CA392163716

Linked Data

dbSNP Id: rs1201686797

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601458T>C , CM000677.2:g.43601458T>C GRCh38
NC_000015.9:g.43893656T>C , CM000677.1:g.43893656T>C GRCh37
NC_000015.8:g.41680948T>C NCBI36
NG_011636.1:g.22343A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4639A>G (STRC) MANE Select ENSP00000401513.2:p.Ile1547Val
ENST00000411560.1:n.142+1925T>C (CKMT1B)
ENST00000428650.5:c.*1672A>G (STRC) ENSP00000415991.1:n.*1672A>G
ENST00000440125.5:c.*2431A>G (STRC) ENSP00000394866.1:n.*2431A>G
ENST00000448437.6:n.1759A>G (STRC)
ENST00000450892.6:c.4639A>G (STRC) ENSP00000401513.2:p.Ile1547Val
ENST00000460952.1:n.218A>G (STRC)
ENST00000471703.5:n.2593A>G (STRC)
ENST00000485556.5:n.3494A>G (STRC)
ENST00000493750.1:n.435A>G (STRC)
ENST00000541030.5:c.2320A>G (STRC) ENSP00000440413.1:p.Ile774Val
NM_153700.2:c.4639A>G (STRC) MANE Select NP_714544.1:p.Ile1547Val
XM_011521277.1:c.5128A>G (STRC) XP_011519579.1:p.Ile1710Val
XM_011521278.1:c.4744A>G (STRC) XP_011519580.1:p.Ile1582Val
XM_011521279.1:c.4744A>G (STRC) XP_011519581.1:p.Ile1582Val