Canonical Allele Identifier: CA392164140

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601538G>A , CM000677.2:g.43601538G>A GRCh38
NC_000015.9:g.43893736G>A , CM000677.1:g.43893736G>A GRCh37
NC_000015.8:g.41681028G>A NCBI36
NG_011636.1:g.22263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4559C>T (STRC) MANE Select ENSP00000401513.2:p.Pro1520Leu
ENST00000411560.1:n.142+2005G>A (CKMT1B)
ENST00000428650.5:c.*1592C>T (STRC) ENSP00000415991.1:n.*1592C>T
ENST00000440125.5:c.*2351C>T (STRC) ENSP00000394866.1:n.*2351C>T
ENST00000448437.6:n.1679C>T (STRC)
ENST00000450892.6:c.4559C>T (STRC) ENSP00000401513.2:p.Pro1520Leu
ENST00000460952.1:n.138C>T (STRC)
ENST00000471703.5:n.2513C>T (STRC)
ENST00000485556.5:n.3414C>T (STRC)
ENST00000493750.1:n.355C>T (STRC)
ENST00000541030.5:c.2240C>T (STRC) ENSP00000440413.1:p.Pro747Leu
NM_153700.2:c.4559C>T (STRC) MANE Select NP_714544.1:p.Pro1520Leu
XM_011521277.1:c.5048C>T (STRC) XP_011519579.1:p.Pro1683Leu
XM_011521278.1:c.4664C>T (STRC) XP_011519580.1:p.Pro1555Leu
XM_011521279.1:c.4664C>T (STRC) XP_011519581.1:p.Pro1555Leu