Canonical Allele Identifier: CA7313853
Community Standard Title: NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92006024A>G , CM000676.2:g.92006024A>G GRCh38
NC_000014.8:g.92472368A>G , CM000676.1:g.92472368A>G GRCh37
NC_000014.7:g.91542121A>G NCBI36
NG_016970.1:g.39036T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.1952T>C MANE Select NP_004230.2:p.Val651Ala
ENST00000267622.8:c.1952T>C MANE Select ENSP00000267622.4:p.Val651Ala
NM_001321851.1:c.1949T>C NP_001308780.1:p.Val650Ala
NM_004239.3:c.1952T>C NP_004230.2:p.Val651Ala
ENST00000554357.5:c.1098T>C
XM_005268214.2:c.626T>C XP_005268271.1:p.Val209Ala
XM_005268215.2:c.1527+1616T>C XP_005268272.1:n.1527+1616T>C
XM_006720321.2:c.1949T>C XP_006720384.1:p.Val650Ala
XM_011537361.1:c.1952T>C XP_011535663.1:p.Val651Ala
XM_017021787.2:c.1247T>C XP_016877276.1:p.Val416Ala
XM_017021788.2:c.626T>C XP_016877277.1:p.Val209Ala
XR_001750598.2:n.2401T>C
XR_943560.1:n.2407T>C
XR_943560.2:n.2401T>C