Canonical Allele Identifier: CA130399

Gene: RXYLT1

Linked Data

• ClinVar Variation Id: 39604
• ClinVar RCV Id: RCV000032804 ; RCV000611814 ; RCV001379590
• dbSNP Id: rs150736997
• ExAC: 12:64202556 A / G
• gnomAD v2: 12-64202556-A-G
• gnomAD v3: 12-63808776-A-G
• gnomAD v4: 12-63808776-A-G
• MyVariant Identifiers: chr12:g.64202556A>G (hg19) ; chr12:g.63808776A>G (hg38)
• PubMed: PMID:23217329

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63808776A>G , CM000674.2:g.63808776A>G	GRCh38
NC_000012.11:g.64202556A>G , CM000674.1:g.64202556A>G	GRCh37
NC_000012.10:g.62488823A>G	NCBI36
NG_033244.1:g.33974A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000537373.6:c.*751A>G	ENSP00000440280.2:n.*751A>G
ENST00000685296.1:c.*2559A>G	ENSP00000508796.1:n.*2559A>G
ENST00000687087.1:c.*675A>G	ENSP00000510657.1:n.*675A>G
ENST00000690060.1:c.*565A>G	ENSP00000508435.1:n.*565A>G
ENST00000691840.1:n.1752A>G
ENST00000692910.1:c.*1008A>G	ENSP00000509763.1:n.*1008A>G
ENST00000693579.1:c.*959A>G	ENSP00000510692.1:n.*959A>G
ENST00000261234.11:c.1016A>G MANE Select	ENSP00000261234.6:p.Tyr339Cys
ENST00000261234.10:c.1016A>G	ENSP00000261234.6:p.Tyr339Cys
ENST00000433461.2:n.1802A>G
ENST00000537373.5:c.236A>G	ENSP00000440280.1:p.Tyr79Cys
ENST00000543342.5:c.*817A>G	ENSP00000440845.1:n.*817A>G
ENST00000623171.1:n.3826A>G
NM_001278237.1:c.236A>G	NP_001265166.1:p.Tyr79Cys
NM_014254.2:c.1016A>G	NP_055069.1:p.Tyr339Cys
XM_005268562.2:c.707A>G	XP_005268619.1:p.Tyr236Cys
XM_005268563.2:c.707A>G	XP_005268620.1:p.Tyr236Cys
XM_005268562.3:c.707A>G	XP_005268619.1:p.Tyr236Cys
XM_005268563.3:c.707A>G	XP_005268620.1:p.Tyr236Cys
XM_017018686.1:c.236A>G	XP_016874175.1:p.Tyr79Cys
XM_017018687.1:c.236A>G	XP_016874176.1:p.Tyr79Cys
XR_001748549.1:n.1190A>G
NM_014254.3:c.1016A>G MANE Select	NP_055069.1:p.Tyr339Cys
NM_001278237.2:c.236A>G	NP_001265166.1:p.Tyr79Cys