Canonical Allele Identifier: CA2231555324

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060556T= , CM000678.2:g.72060556T= GRCh38
NC_000016.9:g.72094455T= , CM000678.1:g.72094455T= GRCh37
NC_000016.8:g.70651956T= NCBI36
NG_012651.1:g.10948T=
NG_030311.1:g.2331T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.887T= (HP) MANE Select ENSP00000348170.5:p.Leu296=
ENST00000228226.12:c.512T= (HP) ENSP00000228226.9:p.Leu171=
ENST00000355906.9:c.887T= (HP) ENSP00000348170.5:p.Leu296=
ENST00000357763.8:c.995T= (HP) ENSP00000350406.5:p.Leu332=
ENST00000398131.6:c.710T= (HP) ENSP00000381199.2:p.Leu237=
ENST00000562153.5:c.285-16199A= (TXNL4B) ENSP00000454635.1:n.285-16199A=
ENST00000562526.5:c.266-107T= (HP) ENSP00000454413.1:n.266-107T=
ENST00000564499.5:c.590T= (HP) ENSP00000456503.1:p.Leu197=
ENST00000565574.5:c.710T= (HP) ENSP00000454966.1:p.Leu237=
ENST00000566821.1:n.2526T= (HP)
ENST00000567185.7:c.879T= (HP)
ENST00000567612.2:c.762T= (HP)
ENST00000570083.5:c.710T= (HP) ENSP00000457629.1:p.Leu237=
ENST00000613898.1:c.512T= (HP) ENSP00000478279.1:p.Leu171=
NM_001126102.1:c.710T= (HP) NP_001119574.1:p.Leu237=
NM_005143.3:c.887T= (HP) NP_005134.1:p.Leu296=
XM_005255922.3:c.710T= (HP) XP_005255979.2:p.Leu237=
NM_001126102.2:c.710T= (HP) NP_001119574.1:p.Leu237=
NM_001318138.1:c.710T= (HP) NP_001305067.1:p.Leu237=
NM_005143.4:c.887T= (HP) NP_005134.1:p.Leu296=
XM_017023377.2:c.285-16199A= (TXNL4B) XP_016878866.1:n.285-16199A=
NM_001318138.2:c.710T= (HP) NP_001305067.1:p.Leu237=
NM_005143.5:c.887T= (HP) MANE Select NP_005134.1:p.Leu296=
NM_001126102.3:c.710T= (HP) NP_001119574.1:p.Leu237=