Canonical Allele Identifier: CA392162572

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600882A>G , CM000677.2:g.43600882A>G GRCh38
NC_000015.9:g.43893080A>G , CM000677.1:g.43893080A>G GRCh37
NC_000015.8:g.41680372A>G NCBI36
NG_011636.1:g.22919T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4834T>C (STRC) MANE Select ENSP00000401513.2:p.Trp1612Arg
ENST00000411560.1:n.142+1349A>G (CKMT1B)
ENST00000428650.5:c.*1867T>C (STRC) ENSP00000415991.1:n.*1867T>C
ENST00000440125.5:c.*2626T>C (STRC) ENSP00000394866.1:n.*2626T>C
ENST00000448437.6:n.1954T>C (STRC)
ENST00000450892.6:c.4834T>C (STRC) ENSP00000401513.2:p.Trp1612Arg
ENST00000460952.1:n.413T>C (STRC)
ENST00000471703.5:n.2788T>C (STRC)
ENST00000485556.5:n.3689T>C (STRC)
ENST00000541030.5:c.2515T>C (STRC) ENSP00000440413.1:p.Trp839Arg
NM_153700.2:c.4834T>C (STRC) MANE Select NP_714544.1:p.Trp1612Arg
XM_011521277.1:c.5323T>C (STRC) XP_011519579.1:p.Trp1775Arg
XM_011521278.1:c.4939T>C (STRC) XP_011519580.1:p.Trp1647Arg
XM_011521279.1:c.4939T>C (STRC) XP_011519581.1:p.Trp1647Arg