Canonical Allele Identifier: CA487324424
Gene: VIPAS39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77907412A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77441069A>G , CM000676.2:g.77441069A>G GRCh38
NC_000014.8:g.77907412A>G , CM000676.1:g.77907412A>G GRCh37
NC_000014.7:g.76977165A>G NCBI36
NG_023421.1:g.21572T>C
NG_023421.2:g.21572T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000557658.6:c.759T>C MANE Select ENSP00000452191.1:p.Leu253=
ENST00000327028.8:c.612T>C ENSP00000313098.5:p.Leu204=
ENST00000343765.6:c.759T>C ENSP00000339122.2:p.Leu253=
ENST00000448935.6:c.612T>C ENSP00000404815.2:p.Leu204=
ENST00000553576.5:n.171T>C
ENST00000553691.5:n.729T>C
ENST00000553888.5:c.759T>C ENSP00000452181.1:p.Leu253=
ENST00000555854.1:n.204T>C
ENST00000556412.4:c.837T>C ENSP00000451857.1:p.Leu279=
ENST00000557658.5:c.759T>C ENSP00000452191.1:p.Leu253=
NM_001193314.1:c.759T>C NP_001180243.1:p.Leu253=
NM_001193315.1:c.759T>C NP_001180244.1:p.Leu253=
NM_001193316.1:c.612T>C NP_001180245.1:p.Leu204=
NM_001193317.1:c.759T>C NP_001180246.1:p.Leu253=
NM_022067.3:c.759T>C NP_071350.2:p.Leu253=
XM_011537066.1:c.666T>C XP_011535368.1:p.Leu222=
XM_011537066.2:c.666T>C XP_011535368.1:p.Leu222=
XM_017021580.2:c.759T>C XP_016877069.1:p.Leu253=
XM_017021581.2:c.759T>C XP_016877070.1:p.Leu253=
XM_024449688.1:c.666T>C XP_024305456.1:p.Leu222=
XR_001750501.2:n.881T>C
NM_001193314.2:c.759T>C NP_001180243.1:p.Leu253=
NM_001193316.2:c.612T>C NP_001180245.1:p.Leu204=
NM_001193317.2:c.759T>C NP_001180246.1:p.Leu253=
NM_022067.4:c.759T>C NP_071350.2:p.Leu253=
NM_001193315.2:c.759T>C MANE Select NP_001180244.1:p.Leu253=
NM_001400324.1:c.612T>C NP_001387253.1:p.Leu204=
NM_001400325.1:c.612T>C NP_001387254.1:p.Leu204=
NM_001400326.1:c.759T>C NP_001387255.1:p.Leu253=
NM_001400327.1:c.726T>C NP_001387256.1:p.Leu242=
NM_001400330.1:c.759T>C NP_001387259.1:p.Leu253=
NM_001400331.1:c.759T>C NP_001387260.1:p.Leu253=
NM_001400332.1:c.759T>C NP_001387261.1:p.Leu253=
NM_001400333.1:c.666T>C NP_001387262.1:p.Leu222=
NM_001400334.1:c.666T>C NP_001387263.1:p.Leu222=
NM_001400335.1:c.759T>C NP_001387264.1:p.Leu253=
NM_001400336.1:c.759T>C NP_001387265.1:p.Leu253=
NM_001400337.1:c.519T>C NP_001387266.1:p.Leu173=
NM_001400338.1:c.734+1491T>C NP_001387267.1:n.734+1491T>C
NM_001400339.1:c.759T>C NP_001387268.1:p.Leu253=
NR_174476.1:n.866T>C