Canonical Allele Identifier: CA356489760
Community Standard Title: NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp)
Gene: TAPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.16213775A>C , CM000666.2:g.16213775A>C GRCh38
NC_000004.11:g.16215398A>C , CM000666.1:g.16215398A>C GRCh37
NC_000004.10:g.15824496A>C NCBI36
NG_033259.1:g.17764T>G

Transcript Alleles

HGVS Amino-acid Change
NM_153365.3:c.323T>G MANE Select NP_699196.2:p.Leu108Trp
ENST00000405303.7:c.323T>G MANE Select ENSP00000385347.2:p.Leu108Trp
NM_153365.2:c.323T>G NP_699196.2:p.Leu108Trp
ENST00000405303.6:c.323T>G ENSP00000385347.2:p.Leu108Trp
ENST00000505152.5:n.318T>G
ENST00000505317.1:n.191+12484T>G
ENST00000505603.5:c.200-11195T>G ENSP00000422652.1:n.200-11195T>G
ENST00000508888.5:n.314T>G
ENST00000510868.5:n.281T>G
ENST00000511156.1:n.434T>G
ENST00000513359.5:n.226T>G
XM_005248139.1:c.64T>G XP_005248196.1:p.Trp22Gly
XM_005248139.3:c.64T>G XP_005248196.1:p.Trp22Gly
XM_005248140.2:c.64T>G XP_005248197.1:p.Trp22Gly
XM_005248140.4:c.64T>G XP_005248197.1:p.Trp22Gly
XM_005248141.1:c.-167T>G XP_005248198.1:n.-167T>G
XM_011513812.1:c.323T>G XP_011512114.1:p.Leu108Trp
XM_011513812.3:c.323T>G XP_011512114.1:p.Leu108Trp
XM_011513813.1:c.173T>G XP_011512115.1:p.Leu58Trp
XM_011513814.1:c.64T>G XP_011512116.1:p.Trp22Gly
XM_011513815.1:c.64T>G XP_011512117.1:p.Trp22Gly
XM_011513816.1:c.-3-11195T>G XP_011512118.1:n.-3-11195T>G
XM_011513816.3:c.-3-11195T>G XP_011512118.1:n.-3-11195T>G
XM_017007876.2:c.-167T>G XP_016863365.1:n.-167T>G
XR_241676.2:n.402T>G
XR_241676.4:n.337T>G
XR_925318.1:n.402T>G
XR_925318.3:n.337T>G