Canonical Allele Identifier: CA7528101

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 505435
• ClinVar RCV Id: RCV000604175 ; RCV000763351 ; RCV002467922 ; RCV003480711 ; RCV003953009
• dbSNP Id: rs748854592
• ExAC: 15:43896351 C / T
• gnomAD v2: 15-43896351-C-T
• gnomAD v3: 15-43604153-C-T
• gnomAD v4: 15-43604153-C-T
• MyVariant Identifiers: chr15:g.43896351C>T (hg19) ; chr15:g.43604153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604153C>T , CM000677.2:g.43604153C>T	GRCh38
NC_000015.9:g.43896351C>T , CM000677.1:g.43896351C>T	GRCh37
NC_000015.8:g.41683643C>T	NCBI36
NG_011636.1:g.19648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4219-1G>A (STRC) MANE Select	ENSP00000401513.2:n.4219-1G>A
ENST00000411560.1:n.143-631C>T (CKMT1B)
ENST00000428650.5:c.*1422-1G>A (STRC)	ENSP00000415991.1:n.*1422-1G>A
ENST00000440125.5:c.*2011-1G>A (STRC)	ENSP00000394866.1:n.*2011-1G>A
ENST00000448437.6:n.1666-2602G>A (STRC)
ENST00000450892.6:c.4219-1G>A (STRC)	ENSP00000401513.2:n.4219-1G>A
ENST00000471703.5:n.2173-1G>A (STRC)
ENST00000485556.5:n.3074-1G>A (STRC)
ENST00000541030.5:c.1900-1G>A (STRC)	ENSP00000440413.1:n.1900-1G>A
NM_153700.2:c.4219-1G>A (STRC) MANE Select	NP_714544.1:n.4219-1G>A
XM_011521277.1:c.4708-1G>A (STRC)	XP_011519579.1:n.4708-1G>A
XM_011521278.1:c.4324-1G>A (STRC)	XP_011519580.1:n.4324-1G>A
XM_011521279.1:c.4324-1G>A (STRC)	XP_011519581.1:n.4324-1G>A