Canonical Allele Identifier: CA13617545
Gene: TMTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.29719385T>G , CM000674.2:g.29719385T>G GRCh38
NC_000012.11:g.29872318T>G , CM000674.1:g.29872318T>G GRCh37
NC_000012.10:g.29763585T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000551659.6:c.938+32281A>C ENSP00000448112.1:n.938+32281A>C
ENST00000539277.6:c.938+32281A>C MANE Select ENSP00000442046.1:n.938+32281A>C
ENST00000256062.9:c.614+32281A>C ENSP00000256062.5:n.614+32281A>C
ENST00000539277.5:c.938+32281A>C ENSP00000442046.1:n.938+32281A>C
ENST00000551659.5:c.938+32281A>C ENSP00000448112.1:n.938+32281A>C
ENST00000552618.5:c.938+32281A>C ENSP00000449043.1:n.938+32281A>C
ENST00000553189.5:n.873+32281A>C
NM_001193451.1:c.938+32281A>C NP_001180380.1:n.938+32281A>C
NM_175861.3:c.614+32281A>C NP_787057.2:n.614+32281A>C
XM_005253498.3:c.938+32281A>C XP_005253555.1:n.938+32281A>C
XM_005253499.3:c.938+32281A>C XP_005253556.1:n.938+32281A>C
XM_005253500.3:c.938+32281A>C XP_005253557.1:n.938+32281A>C
XM_005253501.3:c.731+36324A>C XP_005253558.1:n.731+36324A>C
XM_011520866.1:c.938+32281A>C XP_011519168.1:n.938+32281A>C
XM_011520867.1:c.938+32281A>C XP_011519169.1:n.938+32281A>C
XM_011520868.1:c.731+36324A>C XP_011519170.1:n.731+36324A>C
XM_005253499.4:c.938+32281A>C XP_005253556.1:n.938+32281A>C
XM_017020003.1:c.938+32281A>C XP_016875492.1:n.938+32281A>C
XM_017020004.1:c.731+36324A>C XP_016875493.1:n.731+36324A>C
XM_017020005.1:c.731+36324A>C XP_016875494.1:n.731+36324A>C
XM_017020006.1:c.938+32281A>C XP_016875495.1:n.938+32281A>C
XM_024449218.1:c.407+36324A>C XP_024304986.1:n.407+36324A>C
NM_001193451.2:c.938+32281A>C MANE Select NP_001180380.1:n.938+32281A>C
NM_001367875.1:c.938+32281A>C NP_001354804.1:n.938+32281A>C
NM_001367875.2:c.938+32281A>C NP_001354804.1:n.938+32281A>C