Canonical Allele Identifier: CA5605012
Community Standard Title: NM_019053.6(EXOC6):c.691T>C (p.Ser231Pro)
Gene: EXOC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.92915785T>C , CM000672.2:g.92915785T>C GRCh38
NC_000010.10:g.94675542T>C , CM000672.1:g.94675542T>C GRCh37
NC_000010.9:g.94665522T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019053.6:c.691T>C MANE Select NP_061926.3:p.Ser231Pro
ENST00000260762.10:c.691T>C MANE Select ENSP00000260762.6:p.Ser231Pro
NM_001013848.2:c.676T>C NP_001013870.1:p.Ser226Pro
NM_001013848.3:c.676T>C NP_001013870.1:p.Ser226Pro
NM_001013848.4:c.676T>C NP_001013870.1:p.Ser226Pro
NM_001319194.1:c.739T>C NP_001306123.1:p.Ser247Pro
NM_001319194.2:c.739T>C NP_001306123.1:p.Ser247Pro
NM_001319195.1:c.691T>C NP_001306124.1:p.Ser231Pro
NM_001319195.2:c.691T>C NP_001306124.1:p.Ser231Pro
NM_001319200.1:c.691T>C NP_001306129.1:p.Ser231Pro
NM_001319200.2:c.691T>C NP_001306129.1:p.Ser231Pro
NM_019053.4:c.691T>C NP_061926.3:p.Ser231Pro
NM_019053.5:c.691T>C NP_061926.3:p.Ser231Pro
ENST00000371552.8:c.676T>C ENSP00000360607.4:p.Ser226Pro
ENST00000443748.6:c.691T>C ENSP00000396206.2:p.Ser231Pro
ENST00000497262.1:n.176T>C
ENST00000671701.1:c.676T>C ENSP00000500529.1:p.Ser226Pro
ENST00000672817.1:c.676T>C ENSP00000500468.1:p.Ser226Pro
XM_005269913.1:c.691T>C XP_005269970.1:p.Ser231Pro
XM_005269915.1:c.691T>C XP_005269972.1:p.Ser231Pro
XM_006717896.2:c.676T>C XP_006717959.1:p.Ser226Pro
XM_006717899.1:c.691T>C XP_006717962.1:p.Ser231Pro
XM_006717901.1:c.691T>C XP_006717964.1:p.Ser231Pro
XM_011539874.1:c.676T>C XP_011538176.1:p.Ser226Pro
XM_011539875.1:c.676T>C XP_011538177.1:p.Ser226Pro
XM_017016344.2:c.739T>C XP_016871833.1:p.Ser247Pro
XM_017016345.2:c.676T>C XP_016871834.1:p.Ser226Pro
XM_017016346.2:c.676T>C XP_016871835.1:p.Ser226Pro
XM_017016347.2:c.628T>C XP_016871836.1:p.Ser210Pro
XM_017016348.1:c.739T>C XP_016871837.1:p.Ser247Pro
XM_024448047.1:c.550T>C XP_024303815.1:p.Ser184Pro