Canonical Allele Identifier: CA392166611

Gene: STRC CKMT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43603362C>T , CM000677.2:g.43603362C>T	GRCh38
NC_000015.9:g.43895560C>T , CM000677.1:g.43895560C>T	GRCh37
NC_000015.8:g.41682852C>T	NCBI36
NG_011636.1:g.20439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153700.2:c.4425G>A (STRC) MANE Select	NP_714544.1:p.Trp1475Ter
ENST00000450892.7:c.4425G>A (STRC) MANE Select	ENSP00000401513.2:p.Trp1475Ter
ENST00000411560.1:n.143-1422C>T (CKMT1B)
ENST00000428650.5:c.*1578+634G>A (STRC)	ENSP00000415991.1:n.*1578+634G>A
ENST00000440125.5:c.*2217G>A (STRC)	ENSP00000394866.1:n.*2217G>A
ENST00000448437.6:n.1666-1811G>A (STRC)
ENST00000450892.6:c.4425G>A (STRC)	ENSP00000401513.2:p.Trp1475Ter
ENST00000471703.5:n.2379G>A (STRC)
ENST00000485556.5:n.3280G>A (STRC)
ENST00000493750.1:n.221G>A (STRC)
ENST00000541030.5:c.2106G>A (STRC)	ENSP00000440413.1:p.Trp702Ter
XM_011521277.1:c.4914G>A (STRC)	XP_011519579.1:p.Trp1638Ter
XM_011521278.1:c.4530G>A (STRC)	XP_011519580.1:p.Trp1510Ter
XM_011521279.1:c.4530G>A (STRC)	XP_011519581.1:p.Trp1510Ter