Canonical Allele Identifier: CA2231555236

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060387C= , CM000678.2:g.72060387C= GRCh38
NC_000016.9:g.72094286C= , CM000678.1:g.72094286C= GRCh37
NC_000016.8:g.70651787C= NCBI36
NG_012651.1:g.10779C=
NG_030311.1:g.2162C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.718C= (HP) MANE Select ENSP00000348170.5:p.Pro240=
ENST00000228226.12:c.343C= (HP) ENSP00000228226.9:p.Pro115=
ENST00000355906.9:c.718C= (HP) ENSP00000348170.5:p.Pro240=
ENST00000357763.8:c.826C= (HP) ENSP00000350406.5:p.Pro276=
ENST00000398131.6:c.541C= (HP) ENSP00000381199.2:p.Pro181=
ENST00000562153.5:c.285-16030G= (TXNL4B) ENSP00000454635.1:n.285-16030G=
ENST00000562526.5:c.266-276C= (HP) ENSP00000454413.1:n.266-276C=
ENST00000564499.5:c.421C= (HP) ENSP00000456503.1:p.Pro141=
ENST00000565574.5:c.541C= (HP) ENSP00000454966.1:p.Pro181=
ENST00000566821.1:n.2357C= (HP)
ENST00000567185.7:c.710C= (HP)
ENST00000567612.2:c.593C= (HP)
ENST00000570083.5:c.541C= (HP) ENSP00000457629.1:p.Pro181=
ENST00000613898.1:c.343C= (HP) ENSP00000478279.1:p.Pro115=
NM_001126102.1:c.541C= (HP) NP_001119574.1:p.Pro181=
NM_005143.3:c.718C= (HP) NP_005134.1:p.Pro240=
XM_005255922.3:c.541C= (HP) XP_005255979.2:p.Pro181=
NM_001126102.2:c.541C= (HP) NP_001119574.1:p.Pro181=
NM_001318138.1:c.541C= (HP) NP_001305067.1:p.Pro181=
NM_005143.4:c.718C= (HP) NP_005134.1:p.Pro240=
XM_017023377.2:c.285-16030G= (TXNL4B) XP_016878866.1:n.285-16030G=
NM_001318138.2:c.541C= (HP) NP_001305067.1:p.Pro181=
NM_005143.5:c.718C= (HP) MANE Select NP_005134.1:p.Pro240=
NM_001126102.3:c.541C= (HP) NP_001119574.1:p.Pro181=