Canonical Allele Identifier: CA7927827
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141573
ClinVar RCV Id: RCV003060398
dbSNP Id: rs550041464
ExAC: 16:17232324 C / T
gnomAD v2: 16-17232324-C-T
gnomAD v3: 16-17138467-C-T
gnomAD v4: 16-17138467-C-T
COSMIC: COSM2127800
MyVariant Identifiers: chr16:g.17232324C>T (hg19) chr16:g.17138467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138467C>T , CM000678.2:g.17138467C>T GRCh38
NC_000016.9:g.17232324C>T , CM000678.1:g.17232324C>T GRCh37
NC_000016.8:g.17139825C>T NCBI36
NG_015843.1:g.337415G>A
NG_015843.2:g.337415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1652G>A MANE Select ENSP00000261381.6:p.Arg551His
ENST00000261381.6:c.1652G>A ENSP00000261381.6:p.Arg551His
NM_022166.3:c.1652G>A NP_071449.1:p.Arg551His
XM_011522574.1:c.1652G>A XP_011520876.1:p.Arg551His
XR_933141.1:n.400C>T
NR_135179.1:n.372C>T
XM_017023539.2:c.1652G>A XP_016879028.1:p.Arg551His
XM_017023540.2:c.1652G>A XP_016879029.1:p.Arg551His
NM_022166.4:c.1652G>A MANE Select NP_071449.1:p.Arg551His
Search 100 bp 5'
Search 100 bp 3'