Canonical Allele Identifier: CA392157592

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43599719-A-G
• MyVariant Identifiers: chr15:g.43891917A>G (hg19) ; chr15:g.43599719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599719A>G , CM000677.2:g.43599719A>G	GRCh38
NC_000015.9:g.43891917A>G , CM000677.1:g.43891917A>G	GRCh37
NC_000015.8:g.41679209A>G	NCBI36
NG_011636.1:g.24082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5281T>C (STRC) MANE Select	ENSP00000401513.2:p.Ser1761Pro
ENST00000411560.1:n.142+186A>G (CKMT1B)
ENST00000428650.5:c.*2314T>C (STRC)	ENSP00000415991.1:n.*2314T>C
ENST00000440125.5:c.*3073T>C (STRC)	ENSP00000394866.1:n.*3073T>C
ENST00000448437.6:n.2401T>C (STRC)
ENST00000450892.6:c.5281T>C (STRC)	ENSP00000401513.2:p.Ser1761Pro
ENST00000471703.5:n.3235T>C (STRC)
ENST00000485556.5:n.4136T>C (STRC)
ENST00000541030.5:c.2962T>C (STRC)	ENSP00000440413.1:p.Ser988Pro
NM_153700.2:c.5281T>C (STRC) MANE Select	NP_714544.1:p.Ser1761Pro
XM_011521277.1:c.5770T>C (STRC)	XP_011519579.1:p.Ser1924Pro
XM_011521278.1:c.5386T>C (STRC)	XP_011519580.1:p.Ser1796Pro
XM_011521279.1:c.5386T>C (STRC)	XP_011519581.1:p.Ser1796Pro