Canonical Allele Identifier: CA13169576
Community Standard Title: NM_145206.4(VTI1A):c.561-16162T>C
Gene: VTI1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.112799128T>C , CM000672.2:g.112799128T>C GRCh38
NC_000010.10:g.114558887T>C , CM000672.1:g.114558887T>C GRCh37
NC_000010.9:g.114548877T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_145206.4:c.561-16162T>C MANE Select NP_660207.2:n.561-16162T>C
ENST00000393077.3:c.561-16162T>C MANE Select ENSP00000376792.2:n.561-16162T>C
NM_001318203.1:c.582-16162T>C NP_001305132.1:n.582-16162T>C
NM_001318203.2:c.582-16162T>C NP_001305132.1:n.582-16162T>C
NM_001318205.1:c.*8-16162T>C NP_001305134.1:n.*8-16162T>C
NM_001318205.2:c.*8-16162T>C NP_001305134.1:n.*8-16162T>C
NM_001365711.1:c.582-54448T>C NP_001352640.1:n.582-54448T>C
NM_001365712.1:c.*8-16162T>C NP_001352641.1:n.*8-16162T>C
NM_001365713.1:c.*8-54448T>C NP_001352642.1:n.*8-54448T>C
NM_145206.2:c.561-16162T>C NP_660207.2:n.561-16162T>C
NM_145206.3:c.561-16162T>C NP_660207.2:n.561-16162T>C
ENST00000393077.2:c.561-16162T>C ENSP00000376792.2:n.561-16162T>C
ENST00000705995.1:c.582-16162T>C ENSP00000516199.1:n.582-16162T>C
XM_005269543.3:c.582-16162T>C XP_005269600.1:n.582-16162T>C
XM_005269546.2:c.*8-16162T>C XP_005269603.1:n.*8-16162T>C
XM_005269548.1:c.*8-16162T>C XP_005269605.1:n.*8-16162T>C
XM_006717637.1:c.582-54448T>C XP_006717700.1:n.582-54448T>C
XM_011539331.1:c.*8-54448T>C XP_011537633.1:n.*8-54448T>C
XM_017015747.2:c.582-89607T>C XP_016871236.1:n.582-89607T>C
XM_017015748.2:c.561-54448T>C XP_016871237.1:n.561-54448T>C
XR_001747705.1:n.604-787A>G
XR_002956958.1:n.956+130130T>C