Canonical Allele Identifier: CA394879545
Community Standard Title: NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter)
Gene: XYLT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17158878G>A , CM000678.2:g.17158878G>A GRCh38
NC_000016.9:g.17252735G>A , CM000678.1:g.17252735G>A GRCh37
NC_000016.8:g.17160236G>A NCBI36
NG_015843.1:g.317004C>T
NG_015843.2:g.317004C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022166.4:c.1321C>T MANE Select NP_071449.1:p.Arg441Ter
ENST00000261381.7:c.1321C>T MANE Select ENSP00000261381.6:p.Arg441Ter
NM_022166.3:c.1321C>T NP_071449.1:p.Arg441Ter
ENST00000261381.6:c.1321C>T ENSP00000261381.6:p.Arg441Ter
XM_011522574.1:c.1321C>T XP_011520876.1:p.Arg441Ter
XM_017023539.2:c.1321C>T XP_016879028.1:p.Arg441Ter
XM_017023540.2:c.1321C>T XP_016879029.1:p.Arg441Ter