Canonical Allele Identifier: CA490145448

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 505039
• ClinVar RCV Id: RCV000609384
• dbSNP Id: rs1331991004
• gnomAD v2: 15-43893714-C-T
• gnomAD v3: 15-43601516-C-T
• gnomAD v4: 15-43601516-C-T
• MyVariant Identifiers: chr15:g.43893714C>T (hg19) ; chr15:g.43601516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601516C>T , CM000677.2:g.43601516C>T	GRCh38
NC_000015.9:g.43893714C>T , CM000677.1:g.43893714C>T	GRCh37
NC_000015.8:g.41681006C>T	NCBI36
NG_011636.1:g.22285G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4581G>A (STRC) MANE Select	ENSP00000401513.2:p.Gln1527=
ENST00000411560.1:n.142+1983C>T (CKMT1B)
ENST00000428650.5:c.*1614G>A (STRC)	ENSP00000415991.1:n.*1614G>A
ENST00000440125.5:c.*2373G>A (STRC)	ENSP00000394866.1:n.*2373G>A
ENST00000448437.6:n.1701G>A (STRC)
ENST00000450892.6:c.4581G>A (STRC)	ENSP00000401513.2:p.Gln1527=
ENST00000460952.1:n.160G>A (STRC)
ENST00000471703.5:n.2535G>A (STRC)
ENST00000485556.5:n.3436G>A (STRC)
ENST00000493750.1:n.377G>A (STRC)
ENST00000541030.5:c.2262G>A (STRC)	ENSP00000440413.1:p.Gln754=
NM_153700.2:c.4581G>A (STRC) MANE Select	NP_714544.1:p.Gln1527=
XM_011521277.1:c.5070G>A (STRC)	XP_011519579.1:p.Gln1690=
XM_011521278.1:c.4686G>A (STRC)	XP_011519580.1:p.Gln1562=
XM_011521279.1:c.4686G>A (STRC)	XP_011519581.1:p.Gln1562=