Canonical Allele Identifier: CA151424
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 127235
dbSNP Id: rs587777367
COSMIC: COSM967628

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134708G>A , CM000678.2:g.17134708G>A GRCh38
NC_000016.9:g.17228565G>A , CM000678.1:g.17228565G>A GRCh37
NC_000016.8:g.17136066G>A NCBI36
NG_015843.1:g.341174C>T
NG_015843.2:g.341174C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261381.7:c.1792C>T MANE Select ENSP00000261381.6:p.Arg598Cys
ENST00000261381.6:c.1792C>T ENSP00000261381.6:p.Arg598Cys
NM_022166.3:c.1792C>T NP_071449.1:p.Arg598Cys
XM_011522574.1:c.1792C>T XP_011520876.1:p.Arg598Cys
XR_933140.1:n.82+158G>A
XR_933141.1:n.75+158G>A
XR_933143.1:n.82+158G>A
NR_135179.1:n.47+158G>A
XM_017023539.2:c.1792C>T XP_016879028.1:p.Arg598Cys
XM_017023540.2:c.1792C>T XP_016879029.1:p.Arg598Cys
NM_022166.4:c.1792C>T MANE Select NP_071449.1:p.Arg598Cys