Canonical Allele Identifier: CA7927811

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 1355317
• ClinVar RCV Id: RCV001888014 ; RCV003164068
• dbSNP Id: rs147101412
• ExAC: 16:17232259 C / T
• gnomAD v2: 16-17232259-C-T
• gnomAD v3: 16-17138402-C-T
• gnomAD v4: 16-17138402-C-T
• MyVariant Identifiers: chr16:g.17232259C>T (hg19) ; chr16:g.17138402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138402C>T , CM000678.2:g.17138402C>T	GRCh38
NC_000016.9:g.17232259C>T , CM000678.1:g.17232259C>T	GRCh37
NC_000016.8:g.17139760C>T	NCBI36
NG_015843.1:g.337480G>A
NG_015843.2:g.337480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1717G>A MANE Select	ENSP00000261381.6:p.Gly573Ser
ENST00000261381.6:c.1717G>A	ENSP00000261381.6:p.Gly573Ser
NM_022166.3:c.1717G>A	NP_071449.1:p.Gly573Ser
XM_011522574.1:c.1717G>A	XP_011520876.1:p.Gly573Ser
XR_933141.1:n.335C>T
NR_135179.1:n.307C>T
XM_017023539.2:c.1717G>A	XP_016879028.1:p.Gly573Ser
XM_017023540.2:c.1717G>A	XP_016879029.1:p.Gly573Ser
NM_022166.4:c.1717G>A MANE Select	NP_071449.1:p.Gly573Ser