Canonical Allele Identifier: CA7527952

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 618401
• ClinVar RCV Id: RCV000756727 ; RCV002468031
• dbSNP Id: rs147717802
• ExAC: 15:43893620 G / A
• gnomAD v2: 15-43893620-G-A
• gnomAD v3: 15-43601422-G-A
• gnomAD v4: 15-43601422-G-A
• MyVariant Identifiers: chr15:g.43893620G>A (hg19) ; chr15:g.43601422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601422G>A , CM000677.2:g.43601422G>A	GRCh38
NC_000015.9:g.43893620G>A , CM000677.1:g.43893620G>A	GRCh37
NC_000015.8:g.41680912G>A	NCBI36
NG_011636.1:g.22379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4675C>T (STRC) MANE Select	ENSP00000401513.2:p.Gln1559Ter
ENST00000411560.1:n.142+1889G>A (CKMT1B)
ENST00000428650.5:c.*1708C>T (STRC)	ENSP00000415991.1:n.*1708C>T
ENST00000440125.5:c.*2467C>T (STRC)	ENSP00000394866.1:n.*2467C>T
ENST00000448437.6:n.1795C>T (STRC)
ENST00000450892.6:c.4675C>T (STRC)	ENSP00000401513.2:p.Gln1559Ter
ENST00000460952.1:n.254C>T (STRC)
ENST00000471703.5:n.2629C>T (STRC)
ENST00000485556.5:n.3530C>T (STRC)
ENST00000493750.1:n.471C>T (STRC)
ENST00000541030.5:c.2356C>T (STRC)	ENSP00000440413.1:p.Gln786Ter
NM_153700.2:c.4675C>T (STRC) MANE Select	NP_714544.1:p.Gln1559Ter
XM_011521277.1:c.5164C>T (STRC)	XP_011519579.1:p.Gln1722Ter
XM_011521278.1:c.4780C>T (STRC)	XP_011519580.1:p.Gln1594Ter
XM_011521279.1:c.4780C>T (STRC)	XP_011519581.1:p.Gln1594Ter