Canonical Allele Identifier: CA7287979

Gene: VIPAS39

Linked Data

• dbSNP Id: rs201678794
• ExAC: 14:77907410 G / T
• gnomAD v2: 14-77907410-G-T
• gnomAD v4: 14-77441067-G-T
• MyVariant Identifiers: chr14:g.77907410G>T (hg19) ; chr14:g.77441067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77441067G>T , CM000676.2:g.77441067G>T	GRCh38
NC_000014.8:g.77907410G>T , CM000676.1:g.77907410G>T	GRCh37
NC_000014.7:g.76977163G>T	NCBI36
NG_023421.1:g.21574C>A
NG_023421.2:g.21574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557658.6:c.761C>A MANE Select	ENSP00000452191.1:p.Ala254Glu
ENST00000327028.8:c.614C>A	ENSP00000313098.5:p.Ala205Glu
ENST00000343765.6:c.761C>A	ENSP00000339122.2:p.Ala254Glu
ENST00000448935.6:c.614C>A	ENSP00000404815.2:p.Ala205Glu
ENST00000553576.5:n.173C>A
ENST00000553691.5:n.731C>A
ENST00000553888.5:c.761C>A	ENSP00000452181.1:p.Ala254Glu
ENST00000555854.1:n.206C>A
ENST00000556412.4:c.839C>A	ENSP00000451857.1:p.Ala280Glu
ENST00000557658.5:c.761C>A	ENSP00000452191.1:p.Ala254Glu
NM_001193314.1:c.761C>A	NP_001180243.1:p.Ala254Glu
NM_001193315.1:c.761C>A	NP_001180244.1:p.Ala254Glu
NM_001193316.1:c.614C>A	NP_001180245.1:p.Ala205Glu
NM_001193317.1:c.761C>A	NP_001180246.1:p.Ala254Glu
NM_022067.3:c.761C>A	NP_071350.2:p.Ala254Glu
XM_011537066.1:c.668C>A	XP_011535368.1:p.Ala223Glu
XM_011537066.2:c.668C>A	XP_011535368.1:p.Ala223Glu
XM_017021580.2:c.761C>A	XP_016877069.1:p.Ala254Glu
XM_017021581.2:c.761C>A	XP_016877070.1:p.Ala254Glu
XM_024449688.1:c.668C>A	XP_024305456.1:p.Ala223Glu
XR_001750501.2:n.883C>A
NM_001193314.2:c.761C>A	NP_001180243.1:p.Ala254Glu
NM_001193316.2:c.614C>A	NP_001180245.1:p.Ala205Glu
NM_001193317.2:c.761C>A	NP_001180246.1:p.Ala254Glu
NM_022067.4:c.761C>A	NP_071350.2:p.Ala254Glu
NM_001193315.2:c.761C>A MANE Select	NP_001180244.1:p.Ala254Glu
NM_001400324.1:c.614C>A	NP_001387253.1:p.Ala205Glu
NM_001400325.1:c.614C>A	NP_001387254.1:p.Ala205Glu
NM_001400326.1:c.761C>A	NP_001387255.1:p.Ala254Glu
NM_001400327.1:c.728C>A	NP_001387256.1:p.Ala243Glu
NM_001400330.1:c.761C>A	NP_001387259.1:p.Ala254Glu
NM_001400331.1:c.761C>A	NP_001387260.1:p.Ala254Glu
NM_001400332.1:c.761C>A	NP_001387261.1:p.Ala254Glu
NM_001400333.1:c.668C>A	NP_001387262.1:p.Ala223Glu
NM_001400334.1:c.668C>A	NP_001387263.1:p.Ala223Glu
NM_001400335.1:c.761C>A	NP_001387264.1:p.Ala254Glu
NM_001400336.1:c.761C>A	NP_001387265.1:p.Ala254Glu
NM_001400337.1:c.521C>A	NP_001387266.1:p.Ala174Glu
NM_001400338.1:c.734+1493C>A	NP_001387267.1:n.734+1493C>A
NM_001400339.1:c.761C>A	NP_001387268.1:p.Ala254Glu
NR_174476.1:n.868C>A