Canonical Allele Identifier: CA7527778

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs770350639
• ExAC: 15:43892172 C / T
• gnomAD v2: 15-43892172-C-T
• gnomAD v4: 15-43599974-C-T
• MyVariant Identifiers: chr15:g.43892172C>T (hg19) ; chr15:g.43599974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599974C>T , CM000677.2:g.43599974C>T	GRCh38
NC_000015.9:g.43892172C>T , CM000677.1:g.43892172C>T	GRCh37
NC_000015.8:g.41679464C>T	NCBI36
NG_011636.1:g.23827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5225G>A (STRC) MANE Select	ENSP00000401513.2:p.Ser1742Asn
ENST00000411560.1:n.142+441C>T (CKMT1B)
ENST00000428650.5:c.*2258G>A (STRC)	ENSP00000415991.1:n.*2258G>A
ENST00000440125.5:c.*3017G>A (STRC)	ENSP00000394866.1:n.*3017G>A
ENST00000448437.6:n.2345G>A (STRC)
ENST00000450892.6:c.5225G>A (STRC)	ENSP00000401513.2:p.Ser1742Asn
ENST00000471703.5:n.3179G>A (STRC)
ENST00000485556.5:n.4080G>A (STRC)
ENST00000541030.5:c.2906G>A (STRC)	ENSP00000440413.1:p.Ser969Asn
NM_153700.2:c.5225G>A (STRC) MANE Select	NP_714544.1:p.Ser1742Asn
XM_011521277.1:c.5714G>A (STRC)	XP_011519579.1:p.Ser1905Asn
XM_011521278.1:c.5330G>A (STRC)	XP_011519580.1:p.Ser1777Asn
XM_011521279.1:c.5330G>A (STRC)	XP_011519581.1:p.Ser1777Asn