Canonical Allele Identifier: CA2245612087
Community Standard Title: NM_001370549.1(SLC16A11):c.1255C= (p.Pro419=)
Gene: SLC16A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7041768G= , CM000679.2:g.7041768G= GRCh38
NC_000017.10:g.6945087G= , CM000679.1:g.6945087G= GRCh37
NC_000017.9:g.6885811G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001370549.1:c.1255C= MANE Select NP_001357478.1:p.Pro419=
ENST00000574600.3:c.1255C= MANE Select ENSP00000460927.2:p.Pro419=
NM_001370553.1:c.*163C= NP_001357482.1:n.*163C=
NM_153357.1:c.1327C= NP_699188.1:p.Pro443=
NM_153357.2:c.1255C= NP_699188.2:p.Pro419=
NM_153357.3:c.1255C= NP_699188.2:p.Pro419=
ENST00000308009.5:c.1327C= ENSP00000310490.1:p.Pro443=
ENST00000447225.1:c.1231C= ENSP00000394449.1:p.Pro411=
ENST00000573338.1:n.818C=
ENST00000662352.3:c.1255C= ENSP00000499634.1:p.Pro419=
ENST00000673828.2:c.*163C= ENSP00000501313.1:n.*163C=
XM_005256488.2:c.1612C= XP_005256545.2:p.Pro538=
XM_005256488.4:c.1612C= XP_005256545.2:p.Pro538=
XM_017024282.2:c.844C= XP_016879771.1:p.Pro282=