Canonical Allele Identifier: CA395218342
Community Standard Title: NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)
Gene: XYLT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17117741C>T , CM000678.2:g.17117741C>T GRCh38
NC_000016.9:g.17211598C>T , CM000678.1:g.17211598C>T GRCh37
NC_000016.8:g.17119099C>T NCBI36
NG_015843.1:g.358141G>A
NG_015843.2:g.358141G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022166.4:c.2462G>A MANE Select NP_071449.1:p.Trp821Ter
ENST00000261381.7:c.2462G>A MANE Select ENSP00000261381.6:p.Trp821Ter
NM_022166.3:c.2462G>A NP_071449.1:p.Trp821Ter
ENST00000261381.6:c.2462G>A ENSP00000261381.6:p.Trp821Ter
XM_017023539.2:c.2462G>A XP_016879028.1:p.Trp821Ter
XM_017023540.2:c.2462G>A XP_016879029.1:p.Trp821Ter