Canonical Allele Identifier: CA7927767

Gene: XYLT1

Linked Data

• dbSNP Id: rs752527297
• ExAC: 16:17228572 G / A
• gnomAD v2: 16-17228572-G-A
• gnomAD v3: 16-17134715-G-A
• gnomAD v4: 16-17134715-G-A
• MyVariant Identifiers: chr16:g.17228572G>A (hg19) ; chr16:g.17134715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17134715G>A , CM000678.2:g.17134715G>A	GRCh38
NC_000016.9:g.17228572G>A , CM000678.1:g.17228572G>A	GRCh37
NC_000016.8:g.17136073G>A	NCBI36
NG_015843.1:g.341167C>T
NG_015843.2:g.341167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1785C>T MANE Select	ENSP00000261381.6:p.Phe595=
ENST00000261381.6:c.1785C>T	ENSP00000261381.6:p.Phe595=
NM_022166.3:c.1785C>T	NP_071449.1:p.Phe595=
XM_011522574.1:c.1785C>T	XP_011520876.1:p.Phe595=
XR_933140.1:n.82+165G>A
XR_933141.1:n.75+165G>A
XR_933143.1:n.82+165G>A
NR_135179.1:n.47+165G>A
XM_017023539.2:c.1785C>T	XP_016879028.1:p.Phe595=
XM_017023540.2:c.1785C>T	XP_016879029.1:p.Phe595=
NM_022166.4:c.1785C>T MANE Select	NP_071449.1:p.Phe595=