Canonical Allele Identifier: CA270007233

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs927800686
• gnomAD v2: 15-43892815-G-T
• gnomAD v3: 15-43600617-G-T
• gnomAD v4: 15-43600617-G-T
• MyVariant Identifiers: chr15:g.43892815G>T (hg19) ; chr15:g.43600617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600617G>T , CM000677.2:g.43600617G>T	GRCh38
NC_000015.9:g.43892815G>T , CM000677.1:g.43892815G>T	GRCh37
NC_000015.8:g.41680107G>T	NCBI36
NG_011636.1:g.23184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4910C>A (STRC) MANE Select	ENSP00000401513.2:p.Ala1637Asp
ENST00000411560.1:n.142+1084G>T (CKMT1B)
ENST00000428650.5:c.*1943C>A (STRC)	ENSP00000415991.1:n.*1943C>A
ENST00000440125.5:c.*2702C>A (STRC)	ENSP00000394866.1:n.*2702C>A
ENST00000448437.6:n.2030C>A (STRC)
ENST00000450892.6:c.4910C>A (STRC)	ENSP00000401513.2:p.Ala1637Asp
ENST00000460952.1:n.489C>A (STRC)
ENST00000471703.5:n.2864C>A (STRC)
ENST00000485556.5:n.3765C>A (STRC)
ENST00000541030.5:c.2591C>A (STRC)	ENSP00000440413.1:p.Ala864Asp
NM_153700.2:c.4910C>A (STRC) MANE Select	NP_714544.1:p.Ala1637Asp
XM_011521277.1:c.5399C>A (STRC)	XP_011519579.1:p.Ala1800Asp
XM_011521278.1:c.5015C>A (STRC)	XP_011519580.1:p.Ala1672Asp
XM_011521279.1:c.5015C>A (STRC)	XP_011519581.1:p.Ala1672Asp