Canonical Allele Identifier: CA390697622

Gene: VIPAS39

Linked Data

• MyVariant Identifiers: chr14:g.77907413A>G (hg19) ; chr14:g.77441070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77441070A>G , CM000676.2:g.77441070A>G	GRCh38
NC_000014.8:g.77907413A>G , CM000676.1:g.77907413A>G	GRCh37
NC_000014.7:g.76977166A>G	NCBI36
NG_023421.1:g.21571T>C
NG_023421.2:g.21571T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557658.6:c.758T>C MANE Select	ENSP00000452191.1:p.Leu253Pro
ENST00000327028.8:c.611T>C	ENSP00000313098.5:p.Leu204Pro
ENST00000343765.6:c.758T>C	ENSP00000339122.2:p.Leu253Pro
ENST00000448935.6:c.611T>C	ENSP00000404815.2:p.Leu204Pro
ENST00000553576.5:n.170T>C
ENST00000553691.5:n.728T>C
ENST00000553888.5:c.758T>C	ENSP00000452181.1:p.Leu253Pro
ENST00000555854.1:n.203T>C
ENST00000556412.4:c.836T>C	ENSP00000451857.1:p.Leu279Pro
ENST00000557658.5:c.758T>C	ENSP00000452191.1:p.Leu253Pro
NM_001193314.1:c.758T>C	NP_001180243.1:p.Leu253Pro
NM_001193315.1:c.758T>C	NP_001180244.1:p.Leu253Pro
NM_001193316.1:c.611T>C	NP_001180245.1:p.Leu204Pro
NM_001193317.1:c.758T>C	NP_001180246.1:p.Leu253Pro
NM_022067.3:c.758T>C	NP_071350.2:p.Leu253Pro
XM_011537066.1:c.665T>C	XP_011535368.1:p.Leu222Pro
XM_011537066.2:c.665T>C	XP_011535368.1:p.Leu222Pro
XM_017021580.2:c.758T>C	XP_016877069.1:p.Leu253Pro
XM_017021581.2:c.758T>C	XP_016877070.1:p.Leu253Pro
XM_024449688.1:c.665T>C	XP_024305456.1:p.Leu222Pro
XR_001750501.2:n.880T>C
NM_001193314.2:c.758T>C	NP_001180243.1:p.Leu253Pro
NM_001193316.2:c.611T>C	NP_001180245.1:p.Leu204Pro
NM_001193317.2:c.758T>C	NP_001180246.1:p.Leu253Pro
NM_022067.4:c.758T>C	NP_071350.2:p.Leu253Pro
NM_001193315.2:c.758T>C MANE Select	NP_001180244.1:p.Leu253Pro
NM_001400324.1:c.611T>C	NP_001387253.1:p.Leu204Pro
NM_001400325.1:c.611T>C	NP_001387254.1:p.Leu204Pro
NM_001400326.1:c.758T>C	NP_001387255.1:p.Leu253Pro
NM_001400327.1:c.725T>C	NP_001387256.1:p.Leu242Pro
NM_001400330.1:c.758T>C	NP_001387259.1:p.Leu253Pro
NM_001400331.1:c.758T>C	NP_001387260.1:p.Leu253Pro
NM_001400332.1:c.758T>C	NP_001387261.1:p.Leu253Pro
NM_001400333.1:c.665T>C	NP_001387262.1:p.Leu222Pro
NM_001400334.1:c.665T>C	NP_001387263.1:p.Leu222Pro
NM_001400335.1:c.758T>C	NP_001387264.1:p.Leu253Pro
NM_001400336.1:c.758T>C	NP_001387265.1:p.Leu253Pro
NM_001400337.1:c.518T>C	NP_001387266.1:p.Leu173Pro
NM_001400338.1:c.734+1490T>C	NP_001387267.1:n.734+1490T>C
NM_001400339.1:c.758T>C	NP_001387268.1:p.Leu253Pro
NR_174476.1:n.865T>C