Canonical Allele Identifier: CA346686735
Community Standard Title: NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)
Gene: SLC3A1 HGNC NCBI
PREPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44320221C>A , CM000664.2:g.44320221C>A GRCh38
NC_000002.11:g.44547360C>A , CM000664.1:g.44547360C>A GRCh37
NC_000002.10:g.44400864C>A NCBI36
NG_008233.1:g.49764C>A
NG_016429.1:g.46642G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000341.4:c.1640C>A (SLC3A1) MANE Select NP_000332.2:p.Ser547Ter
NM_001171613.2:c.*1135G>T (PREPL) MANE Select NP_001165084.1:n.*1135G>T
ENST00000260649.11:c.1640C>A (SLC3A1) MANE Select ENSP00000260649.6:p.Ser547Ter
ENST00000409411.6:c.*1135G>T (PREPL) MANE Select ENSP00000387095.2:n.*1135G>T
NM_000341.3:c.1640C>A (SLC3A1) NP_000332.2:p.Ser547Ter
NM_001042385.2:c.*1135G>T (PREPL) NP_001035844.1:n.*1135G>T
NM_001042386.2:c.*1135G>T (PREPL) NP_001035845.1:n.*1135G>T
NM_001171603.1:c.*1135G>T (PREPL) NP_001165074.1:n.*1135G>T
NM_001171606.1:c.*1135G>T (PREPL) NP_001165077.1:n.*1135G>T
NM_001171606.2:c.*1135G>T (PREPL) NP_001165077.1:n.*1135G>T
NM_001171613.1:c.*1135G>T (PREPL) NP_001165084.1:n.*1135G>T
NM_001171617.1:c.*1135G>T (PREPL) NP_001165088.1:n.*1135G>T
NM_001374275.1:c.*1135G>T (PREPL) NP_001361204.1:n.*1135G>T
NM_001374276.1:c.*1135G>T (PREPL) NP_001361205.1:n.*1135G>T
NM_001374277.1:c.*1135G>T (PREPL) NP_001361206.1:n.*1135G>T
NM_006036.4:c.*1135G>T (PREPL) NP_006027.2:n.*1135G>T
ENST00000260649.10:c.1640C>A (SLC3A1) ENSP00000260649.6:p.Ser547Ter
ENST00000409380.5:c.806C>A (SLC3A1) ENSP00000386709.1:p.Ser269Ter
ENST00000409411.5:c.*1135G>T (PREPL) ENSP00000387095.1:n.*1135G>T
ENST00000409740.3:c.533C>A (SLC3A1) ENSP00000386677.3:p.Ser178Ter
ENST00000409936.5:c.*1135G>T (PREPL) ENSP00000386543.1:n.*1135G>T
ENST00000409957.5:c.*1135G>T (PREPL) ENSP00000387241.1:n.*1135G>T
ENST00000425263.5:c.*1135G>T (PREPL) ENSP00000391456.1:n.*1135G>T
ENST00000426481.5:c.*1135G>T (PREPL) ENSP00000409480.1:n.*1135G>T
ENST00000541738.5:c.*1135G>T (PREPL) ENSP00000439626.1:n.*1135G>T
ENST00000649044.1:c.*1651C>A ENSP00000497083.1:n.*1651C>A
XM_011533047.3:c.*2026C>A (SLC3A1) XP_011531349.1:n.*2026C>A
XM_011533198.1:c.*1135G>T (PREPL) XP_011531500.1:n.*1135G>T
XM_011533198.2:c.*1135G>T (PREPL) XP_011531500.1:n.*1135G>T
XM_011533199.1:c.*1135G>T (PREPL) XP_011531501.1:n.*1135G>T
XM_011533200.1:c.*1135G>T (PREPL) XP_011531502.1:n.*1135G>T
XM_011533201.1:c.*1208G>T (PREPL) XP_011531503.1:n.*1208G>T
XM_011533202.1:c.*1135G>T (PREPL) XP_011531504.1:n.*1135G>T
XM_017005384.1:c.*1135G>T (PREPL) XP_016860873.1:n.*1135G>T
XM_017005385.1:c.*1135G>T (PREPL) XP_016860874.1:n.*1135G>T