Canonical Allele Identifier: CA1452906
Community Standard Title: NM_032018.7(SPRTN):c.1315A>T (p.Thr439Ser)
Gene: SPRTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231353206A>T , CM000663.2:g.231353206A>T GRCh38
NC_000001.10:g.231488952A>T , CM000663.1:g.231488952A>T GRCh37
NC_000001.9:g.229555575A>T NCBI36
NG_042052.1:g.20271A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032018.7:c.1315A>T MANE Select NP_114407.3:p.Thr439Ser
ENST00000295050.12:c.1315A>T MANE Select ENSP00000295050.7:p.Thr439Ser
NM_001010984.2:c.*1600A>T NP_001010984.1:n.*1600A>T
NM_001010984.3:c.*1600A>T NP_001010984.1:n.*1600A>T
NM_001010984.4:c.*1600A>T NP_001010984.1:n.*1600A>T
NM_001261462.1:c.*1600A>T NP_001248391.1:n.*1600A>T
NM_001261462.2:c.*1600A>T NP_001248391.1:n.*1600A>T
NM_001261462.3:c.*1600A>T NP_001248391.1:n.*1600A>T
NM_032018.5:c.1315A>T NP_114407.3:p.Thr439Ser
NM_032018.6:c.1315A>T NP_114407.3:p.Thr439Ser
ENST00000295050.11:c.1315A>T ENSP00000295050.7:p.Thr439Ser
XM_005273284.2:c.733+582A>T XP_005273341.1:n.733+582A>T
XM_005273285.2:c.718+1635A>T XP_005273342.1:n.718+1635A>T
XM_006711818.2:c.1186A>T XP_006711881.1:p.Thr396Ser
XM_006711818.3:c.1186A>T XP_006711881.1:p.Thr396Ser
XM_011544288.1:c.1138A>T XP_011542590.1:p.Thr380Ser
XM_011544289.1:c.931A>T XP_011542591.1:p.Thr311Ser
XM_011544289.2:c.931A>T XP_011542591.1:p.Thr311Ser