Canonical Allele Identifier: CA392163437

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43601408-C-G
• MyVariant Identifiers: chr15:g.43893606C>G (hg19) ; chr15:g.43601408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601408C>G , CM000677.2:g.43601408C>G	GRCh38
NC_000015.9:g.43893606C>G , CM000677.1:g.43893606C>G	GRCh37
NC_000015.8:g.41680898C>G	NCBI36
NG_011636.1:g.22393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4689G>C (STRC) MANE Select	ENSP00000401513.2:p.Trp1563Cys
ENST00000411560.1:n.142+1875C>G (CKMT1B)
ENST00000428650.5:c.*1722G>C (STRC)	ENSP00000415991.1:n.*1722G>C
ENST00000440125.5:c.*2481G>C (STRC)	ENSP00000394866.1:n.*2481G>C
ENST00000448437.6:n.1809G>C (STRC)
ENST00000450892.6:c.4689G>C (STRC)	ENSP00000401513.2:p.Trp1563Cys
ENST00000460952.1:n.268G>C (STRC)
ENST00000471703.5:n.2643G>C (STRC)
ENST00000485556.5:n.3544G>C (STRC)
ENST00000493750.1:n.485G>C (STRC)
ENST00000541030.5:c.2370G>C (STRC)	ENSP00000440413.1:p.Trp790Cys
NM_153700.2:c.4689G>C (STRC) MANE Select	NP_714544.1:p.Trp1563Cys
XM_011521277.1:c.5178G>C (STRC)	XP_011519579.1:p.Trp1726Cys
XM_011521278.1:c.4794G>C (STRC)	XP_011519580.1:p.Trp1598Cys
XM_011521279.1:c.4794G>C (STRC)	XP_011519581.1:p.Trp1598Cys