Canonical Allele Identifier: CA382589819

Gene: DIXDC1

Linked Data

• MyVariant Identifiers: chr11:g.111887418T>G (hg19) ; chr11:g.112016694T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016694T>G , CM000673.2:g.112016694T>G	GRCh38
NC_000011.9:g.111887418T>G , CM000673.1:g.111887418T>G	GRCh37
NC_000011.8:g.111392628T>G	NCBI36
NG_033127.1:g.94552T>G
NG_033127.2:g.94551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1760T>G MANE Select	ENSP00000394352.3:p.Leu587Trp
ENST00000440460.6:c.1760T>G	ENSP00000394352.3:p.Leu587Trp
ENST00000526500.5:n.756T>G
ENST00000615255.1:c.1127T>G	ENSP00000480808.1:p.Leu376Trp
ENST00000618522.4:n.1113T>G
NM_001037954.3:c.1760T>G	NP_001033043.1:p.Leu587Trp
NM_033425.4:c.1127T>G	NP_219493.1:p.Leu376Trp
XM_005277726.3:c.1760T>G	XP_005277783.1:p.Leu587Trp
XM_005277727.3:c.1757T>G	XP_005277784.1:p.Leu586Trp
XM_005277728.3:c.1127T>G	XP_005277785.1:p.Leu376Trp
XM_011543045.1:c.878T>G	XP_011541347.1:p.Leu293Trp
XM_011543046.1:c.872T>G	XP_011541348.1:p.Leu291Trp
XM_017018466.2:c.1757T>G	XP_016873955.1:p.Leu586Trp
XM_017018467.1:c.1757T>G	XP_016873956.1:p.Leu586Trp
XM_017018468.1:c.878T>G	XP_016873957.1:p.Leu293Trp
XM_017018469.1:c.872T>G	XP_016873958.1:p.Leu291Trp
XM_024448742.1:c.1652T>G	XP_024304510.1:p.Leu551Trp
XM_024448743.1:c.1649T>G	XP_024304511.1:p.Leu550Trp
NM_001037954.4:c.1760T>G MANE Select	NP_001033043.1:p.Leu587Trp
NM_033425.5:c.1127T>G	NP_219493.1:p.Leu376Trp