Canonical Allele Identifier: CA7928199

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 373449
• ClinVar RCV Id: RCV000413146 ; RCV000888814 ; RCV002523958 ; RCV003932534
• dbSNP Id: rs74993523
• ExAC: 16:17353337 G / A
• gnomAD v2: 16-17353337-G-A
• gnomAD v3: 16-17259480-G-A
• gnomAD v4: 16-17259480-G-A
• MyVariant Identifiers: chr16:g.17353337G>A (hg19) ; chr16:g.17259480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17259480G>A , CM000678.2:g.17259480G>A	GRCh38
NC_000016.9:g.17353337G>A , CM000678.1:g.17353337G>A	GRCh37
NC_000016.8:g.17260838G>A	NCBI36
NG_015843.1:g.216402C>T
NG_015843.2:g.216402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.421C>T MANE Select	ENSP00000261381.6:p.Arg141Trp
ENST00000261381.6:c.421C>T	ENSP00000261381.6:p.Arg141Trp
NM_022166.3:c.421C>T	NP_071449.1:p.Arg141Trp
XM_011522574.1:c.421C>T	XP_011520876.1:p.Arg141Trp
XM_017023539.2:c.421C>T	XP_016879028.1:p.Arg141Trp
XM_017023540.2:c.421C>T	XP_016879029.1:p.Arg141Trp
NM_022166.4:c.421C>T MANE Select	NP_071449.1:p.Arg141Trp