Canonical Allele Identifier: CA340192933

Gene: POMGNT1

Linked Data

• ClinVar Variation Id: 1449403
• ClinVar RCV Id: RCV001997532
• dbSNP Id: rs2148222670
• MyVariant Identifiers: chr1:g.46663433A>G (hg19) ; chr1:g.46197761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46197761A>G , CM000663.2:g.46197761A>G	GRCh38
NC_000001.10:g.46663433A>G , CM000663.1:g.46663433A>G	GRCh37
NC_000001.9:g.46436020A>G	NCBI36
NG_009205.2:g.27545T>C
NG_009205.3:g.27545T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.61T>C	ENSP00000379698.4:p.Trp21Arg
ENST00000477114.2:n.233T>C
ENST00000497439.6:n.233T>C
ENST00000684817.1:n.229T>C
ENST00000684898.1:n.233T>C
ENST00000685230.1:c.61T>C	ENSP00000510305.1:p.Trp21Arg
ENST00000685275.1:n.218T>C
ENST00000685444.1:c.61T>C	ENSP00000510762.1:p.Trp21Arg
ENST00000685704.1:n.233T>C
ENST00000685775.1:n.233T>C
ENST00000685833.1:n.206T>C
ENST00000686252.1:n.362T>C
ENST00000686379.1:c.61T>C	ENSP00000508913.1:p.Trp21Arg
ENST00000686724.1:n.233T>C
ENST00000686737.1:c.61T>C	ENSP00000508736.1:p.Trp21Arg
ENST00000687112.1:n.233T>C
ENST00000687149.1:c.61T>C	ENSP00000509745.1:p.Trp21Arg
ENST00000687197.1:c.61T>C	ENSP00000510749.1:p.Trp21Arg
ENST00000687235.1:n.233T>C
ENST00000687613.1:n.229T>C
ENST00000687683.1:c.61T>C	ENSP00000508522.1:p.Trp21Arg
ENST00000688032.1:n.233T>C
ENST00000688596.1:n.233T>C
ENST00000688608.1:c.61T>C	ENSP00000508890.1:p.Trp21Arg
ENST00000688919.1:n.214T>C
ENST00000689031.1:n.233T>C
ENST00000689717.1:n.233T>C
ENST00000689756.1:c.61T>C	ENSP00000509023.1:p.Trp21Arg
ENST00000690377.1:n.233T>C
ENST00000690678.1:c.61T>C	ENSP00000508703.1:p.Trp21Arg
ENST00000691209.1:c.61T>C	ENSP00000510112.1:p.Trp21Arg
ENST00000691243.1:c.61T>C	ENSP00000510654.1:p.Trp21Arg
ENST00000692169.1:n.233T>C
ENST00000692202.1:n.229T>C
ENST00000692322.1:c.61T>C	ENSP00000509017.1:p.Trp21Arg
ENST00000692369.1:c.61T>C	ENSP00000508453.1:p.Trp21Arg
ENST00000692599.1:n.233T>C
ENST00000692635.1:c.61T>C	ENSP00000508425.1:p.Trp21Arg
ENST00000693168.1:n.233T>C
ENST00000693218.1:c.61T>C	ENSP00000510577.1:p.Trp21Arg
ENST00000693223.1:n.709T>C
ENST00000693365.1:n.187T>C
ENST00000371984.8:c.61T>C MANE Select	ENSP00000361052.3:p.Trp21Arg
ENST00000371984.7:c.61T>C	ENSP00000361052.3:p.Trp21Arg
ENST00000371992.1:c.61T>C	ENSP00000361060.1:p.Trp21Arg
ENST00000396420.7:c.61T>C	ENSP00000379698.3:p.Trp21Arg
ENST00000489985.1:n.342T>C
ENST00000497439.5:n.185T>C
NM_001243766.1:c.61T>C	NP_001230695.1:p.Trp21Arg
NM_017739.3:c.61T>C	NP_060209.3:p.Trp21Arg
XM_005271010.1:c.61T>C	XP_005271067.1:p.Trp21Arg
XM_006710755.1:c.61T>C	XP_006710818.1:p.Trp21Arg
XM_006710756.1:c.61T>C	XP_006710819.1:p.Trp21Arg
XR_946706.1:n.220T>C
XM_017001690.1:c.61T>C	XP_016857179.1:p.Trp21Arg
NM_001243766.2:c.61T>C	NP_001230695.2:p.Trp21Arg
NM_017739.4:c.61T>C MANE Select	NP_060209.4:p.Trp21Arg