Canonical Allele Identifier: CA7927741

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 2041798
• ClinVar RCV Id: RCV002903251
• dbSNP Id: rs775575069
• ExAC: 16:17228474 C / T
• gnomAD v2: 16-17228474-C-T
• gnomAD v3: 16-17134617-C-T
• gnomAD v4: 16-17134617-C-T
• MyVariant Identifiers: chr16:g.17228474C>T (hg19) ; chr16:g.17134617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17134617C>T , CM000678.2:g.17134617C>T	GRCh38
NC_000016.9:g.17228474C>T , CM000678.1:g.17228474C>T	GRCh37
NC_000016.8:g.17135975C>T	NCBI36
NG_015843.1:g.341265G>A
NG_015843.2:g.341265G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261381.7:c.1883G>A MANE Select	ENSP00000261381.6:p.Arg628His
ENST00000261381.6:c.1883G>A	ENSP00000261381.6:p.Arg628His
NM_022166.3:c.1883G>A	NP_071449.1:p.Arg628His
XM_011522574.1:c.1883G>A	XP_011520876.1:p.Arg628His
XR_933140.1:n.82+67C>T
XR_933141.1:n.75+67C>T
XR_933143.1:n.82+67C>T
NR_135179.1:n.47+67C>T
XM_017023539.2:c.1883G>A	XP_016879028.1:p.Arg628His
XM_017023540.2:c.1883G>A	XP_016879029.1:p.Arg628His
NM_022166.4:c.1883G>A MANE Select	NP_071449.1:p.Arg628His