Canonical Allele Identifier: CA7927700
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2142099
ClinVar RCV Id: RCV003058885 RCV003058886
dbSNP Id: rs765771864
ExAC: 16:17228330 C / T
gnomAD v2: 16-17228330-C-T
gnomAD v3: 16-17134473-C-T
gnomAD v4: 16-17134473-C-T
MyVariant Identifiers: chr16:g.17228330C>T (hg19) chr16:g.17134473C>T (hg38)
PubMed: PMID:25363760
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134473C>T , CM000678.2:g.17134473C>T GRCh38
NC_000016.9:g.17228330C>T , CM000678.1:g.17228330C>T GRCh37
NC_000016.8:g.17135831C>T NCBI36
NG_015843.1:g.341409G>A
NG_015843.2:g.341409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.2027G>A MANE Select ENSP00000261381.6:p.Arg676Gln
ENST00000261381.6:c.2027G>A ENSP00000261381.6:p.Arg676Gln
NM_022166.3:c.2027G>A NP_071449.1:p.Arg676Gln
XM_011522574.1:c.2027G>A XP_011520876.1:p.Arg676Gln
XR_933140.1:n.5C>T
XR_933143.1:n.5C>T
XM_017023539.2:c.2027G>A XP_016879028.1:p.Arg676Gln
XM_017023540.2:c.2027G>A XP_016879029.1:p.Arg676Gln
NM_022166.4:c.2027G>A MANE Select NP_071449.1:p.Arg676Gln
Search 100 bp 5'
Search 100 bp 3'