Canonical Allele Identifier: CA395219455

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 1911724
• ClinVar RCV Id: RCV002578658
• gnomAD v4: 16-17134548-A-C
• MyVariant Identifiers: chr16:g.17228405A>C (hg19) ; chr16:g.17134548A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17134548A>C , CM000678.2:g.17134548A>C	GRCh38
NC_000016.9:g.17228405A>C , CM000678.1:g.17228405A>C	GRCh37
NC_000016.8:g.17135906A>C	NCBI36
NG_015843.1:g.341334T>G
NG_015843.2:g.341334T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1952T>G MANE Select	ENSP00000261381.6:p.Leu651Trp
ENST00000261381.6:c.1952T>G	ENSP00000261381.6:p.Leu651Trp
NM_022166.3:c.1952T>G	NP_071449.1:p.Leu651Trp
XM_011522574.1:c.1952T>G	XP_011520876.1:p.Leu651Trp
XR_933140.1:n.80A>C
XR_933141.1:n.73A>C
XR_933143.1:n.80A>C
NR_135179.1:n.45A>C
XM_017023539.2:c.1952T>G	XP_016879028.1:p.Leu651Trp
XM_017023540.2:c.1952T>G	XP_016879029.1:p.Leu651Trp
NM_022166.4:c.1952T>G MANE Select	NP_071449.1:p.Leu651Trp