Canonical Allele Identifier: CA7527853

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs750994204
• ExAC: 15:43892861 C / T
• gnomAD v2: 15-43892861-C-T
• gnomAD v4: 15-43600663-C-T
• MyVariant Identifiers: chr15:g.43892861C>T (hg19) ; chr15:g.43600663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600663C>T , CM000677.2:g.43600663C>T	GRCh38
NC_000015.9:g.43892861C>T , CM000677.1:g.43892861C>T	GRCh37
NC_000015.8:g.41680153C>T	NCBI36
NG_011636.1:g.23138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4864G>A (STRC) MANE Select	ENSP00000401513.2:p.Gly1622Ser
ENST00000411560.1:n.142+1130C>T (CKMT1B)
ENST00000428650.5:c.*1897G>A (STRC)	ENSP00000415991.1:n.*1897G>A
ENST00000440125.5:c.*2656G>A (STRC)	ENSP00000394866.1:n.*2656G>A
ENST00000448437.6:n.1984G>A (STRC)
ENST00000450892.6:c.4864G>A (STRC)	ENSP00000401513.2:p.Gly1622Ser
ENST00000460952.1:n.443G>A (STRC)
ENST00000471703.5:n.2818G>A (STRC)
ENST00000485556.5:n.3719G>A (STRC)
ENST00000541030.5:c.2545G>A (STRC)	ENSP00000440413.1:p.Gly849Ser
NM_153700.2:c.4864G>A (STRC) MANE Select	NP_714544.1:p.Gly1622Ser
XM_011521277.1:c.5353G>A (STRC)	XP_011519579.1:p.Gly1785Ser
XM_011521278.1:c.4969G>A (STRC)	XP_011519580.1:p.Gly1657Ser
XM_011521279.1:c.4969G>A (STRC)	XP_011519581.1:p.Gly1657Ser