Canonical Allele Identifier: CA7528143

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs770034377
• ExAC: 15:43896831 T / C
• gnomAD v2: 15-43896831-T-C
• gnomAD v4: 15-43604633-T-C
• MyVariant Identifiers: chr15:g.43896831T>C (hg19) ; chr15:g.43604633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604633T>C , CM000677.2:g.43604633T>C	GRCh38
NC_000015.9:g.43896831T>C , CM000677.1:g.43896831T>C	GRCh37
NC_000015.8:g.41684123T>C	NCBI36
NG_011636.1:g.19168A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4127+17A>G (STRC) MANE Select	ENSP00000401513.2:n.4127+17A>G
ENST00000411560.1:n.143-151T>C (CKMT1B)
ENST00000428650.5:c.*1330+17A>G (STRC)	ENSP00000415991.1:n.*1330+17A>G
ENST00000440125.5:c.*1919+17A>G (STRC)	ENSP00000394866.1:n.*1919+17A>G
ENST00000448437.6:n.1666-3082A>G (STRC)
ENST00000450892.6:c.4127+17A>G (STRC)	ENSP00000401513.2:n.4127+17A>G
ENST00000471703.5:n.2081+17A>G (STRC)
ENST00000485556.5:n.2982+17A>G (STRC)
ENST00000541030.5:c.1808+17A>G (STRC)	ENSP00000440413.1:n.1808+17A>G
NM_153700.2:c.4127+17A>G (STRC) MANE Select	NP_714544.1:n.4127+17A>G
XM_011521277.1:c.4616+17A>G (STRC)	XP_011519579.1:n.4616+17A>G
XM_011521278.1:c.4232+17A>G (STRC)	XP_011519580.1:n.4232+17A>G
XM_011521279.1:c.4232+17A>G (STRC)	XP_011519581.1:n.4232+17A>G