Canonical Allele Identifier: CA618004425

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1203163254
• gnomAD v2: 15-43896544-C-T
• MyVariant Identifiers: chr15:g.43896544C>T (hg19) ; chr15:g.43604346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604346C>T , CM000677.2:g.43604346C>T	GRCh38
NC_000015.9:g.43896544C>T , CM000677.1:g.43896544C>T	GRCh37
NC_000015.8:g.41683836C>T	NCBI36
NG_011636.1:g.19455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4218+15G>A (STRC) MANE Select	ENSP00000401513.2:n.4218+15G>A
ENST00000411560.1:n.143-438C>T (CKMT1B)
ENST00000428650.5:c.*1421+15G>A (STRC)	ENSP00000415991.1:n.*1421+15G>A
ENST00000440125.5:c.*2010+15G>A (STRC)	ENSP00000394866.1:n.*2010+15G>A
ENST00000448437.6:n.1666-2795G>A (STRC)
ENST00000450892.6:c.4218+15G>A (STRC)	ENSP00000401513.2:n.4218+15G>A
ENST00000471703.5:n.2172+15G>A (STRC)
ENST00000485556.5:n.3073+15G>A (STRC)
ENST00000541030.5:c.1899+15G>A (STRC)	ENSP00000440413.1:n.1899+15G>A
NM_153700.2:c.4218+15G>A (STRC) MANE Select	NP_714544.1:n.4218+15G>A
XM_011521277.1:c.4707+15G>A (STRC)	XP_011519579.1:n.4707+15G>A
XM_011521278.1:c.4323+15G>A (STRC)	XP_011519580.1:n.4323+15G>A
XM_011521279.1:c.4323+15G>A (STRC)	XP_011519581.1:n.4323+15G>A