Canonical Allele Identifier: CA178045

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 165307
• ClinVar RCV Id: RCV000151946 ; RCV001651022
• dbSNP Id: rs143345370
• ExAC: 15:43896940 C / G
• gnomAD v2: 15-43896940-C-G
• gnomAD v3: 15-43604742-C-G
• gnomAD v4: 15-43604742-C-G
• MyVariant Identifiers: chr15:g.43896940C>G (hg19) ; chr15:g.43604742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43604742C>G , CM000677.2:g.43604742C>G	GRCh38
NC_000015.9:g.43896940C>G , CM000677.1:g.43896940C>G	GRCh37
NC_000015.8:g.41684232C>G	NCBI36
NG_011636.1:g.19059G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4035G>C (STRC) MANE Select	ENSP00000401513.2:p.Leu1345=
ENST00000411560.1:n.143-42C>G (CKMT1B)
ENST00000428650.5:c.*1238G>C (STRC)	ENSP00000415991.1:n.*1238G>C
ENST00000440125.5:c.*1827G>C (STRC)	ENSP00000394866.1:n.*1827G>C
ENST00000448437.6:n.1665+3121G>C (STRC)
ENST00000450892.6:c.4035G>C (STRC)	ENSP00000401513.2:p.Leu1345=
ENST00000455136.5:c.1066G>C (STRC)
ENST00000471703.5:n.1989G>C (STRC)
ENST00000485556.5:n.2890G>C (STRC)
ENST00000541030.5:c.1716G>C (STRC)	ENSP00000440413.1:p.Leu572=
NM_153700.2:c.4035G>C (STRC) MANE Select	NP_714544.1:p.Leu1345=
XM_011521277.1:c.4524G>C (STRC)	XP_011519579.1:p.Leu1508=
XM_011521278.1:c.4140G>C (STRC)	XP_011519580.1:p.Leu1380=
XM_011521279.1:c.4140G>C (STRC)	XP_011519581.1:p.Leu1380=