Canonical Allele Identifier: CA7927793

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 1583472
• ClinVar RCV Id: RCV002111466
• dbSNP Id: rs188563835
• ExAC: 16:17232201 G / C
• gnomAD v2: 16-17232201-G-C
• gnomAD v3: 16-17138344-G-C
• gnomAD v4: 16-17138344-G-C
• MyVariant Identifiers: chr16:g.17232201G>C (hg19) ; chr16:g.17138344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138344G>C , CM000678.2:g.17138344G>C	GRCh38
NC_000016.9:g.17232201G>C , CM000678.1:g.17232201G>C	GRCh37
NC_000016.8:g.17139702G>C	NCBI36
NG_015843.1:g.337538C>G
NG_015843.2:g.337538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+11C>G MANE Select	ENSP00000261381.6:n.1764+11C>G
ENST00000261381.6:c.1764+11C>G	ENSP00000261381.6:n.1764+11C>G
NM_022166.3:c.1764+11C>G	NP_071449.1:n.1764+11C>G
XM_011522574.1:c.1764+11C>G	XP_011520876.1:n.1764+11C>G
XR_933140.1:n.438G>C
XR_933141.1:n.277G>C
XR_933143.1:n.339G>C
NR_135179.1:n.249G>C
XM_017023539.2:c.1764+11C>G	XP_016879028.1:n.1764+11C>G
XM_017023540.2:c.1764+11C>G	XP_016879029.1:n.1764+11C>G
NM_022166.4:c.1764+11C>G MANE Select	NP_071449.1:n.1764+11C>G