Canonical Allele Identifier: CA396676301

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060168C>G , CM000678.2:g.72060168C>G GRCh38
NC_000016.9:g.72094067C>G , CM000678.1:g.72094067C>G GRCh37
NC_000016.8:g.70651568C>G NCBI36
NG_012651.1:g.10560C>G
NG_030311.1:g.1943C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.499C>G (HP) MANE Select ENSP00000348170.5:p.Leu167Val
ENST00000228226.12:c.124C>G (HP) ENSP00000228226.9:p.Leu42Val
ENST00000355906.9:c.499C>G (HP) ENSP00000348170.5:p.Leu167Val
ENST00000357763.8:c.607C>G (HP) ENSP00000350406.5:p.Leu203Val
ENST00000398131.6:c.322C>G (HP) ENSP00000381199.2:p.Leu108Val
ENST00000562153.5:c.285-15811G>C (TXNL4B) ENSP00000454635.1:n.285-15811G>C
ENST00000562526.5:c.266-495C>G (HP) ENSP00000454413.1:n.266-495C>G
ENST00000564499.5:c.266-64C>G (HP) ENSP00000456503.1:n.266-64C>G
ENST00000565574.5:c.322C>G (HP) ENSP00000454966.1:p.Leu108Val
ENST00000566821.1:n.2138C>G (HP)
ENST00000567185.7:c.491C>G (HP)
ENST00000567612.2:c.438-64C>G (HP)
ENST00000570083.5:c.322C>G (HP) ENSP00000457629.1:p.Leu108Val
ENST00000613898.1:c.124C>G (HP) ENSP00000478279.1:p.Leu42Val
NM_001126102.1:c.322C>G (HP) NP_001119574.1:p.Leu108Val
NM_005143.3:c.499C>G (HP) NP_005134.1:p.Leu167Val
XM_005255922.3:c.322C>G (HP) XP_005255979.2:p.Leu108Val
NM_001126102.2:c.322C>G (HP) NP_001119574.1:p.Leu108Val
NM_001318138.1:c.322C>G (HP) NP_001305067.1:p.Leu108Val
NM_005143.4:c.499C>G (HP) NP_005134.1:p.Leu167Val
XM_017023377.2:c.285-15811G>C (TXNL4B) XP_016878866.1:n.285-15811G>C
NM_001318138.2:c.322C>G (HP) NP_001305067.1:p.Leu108Val
NM_005143.5:c.499C>G (HP) MANE Select NP_005134.1:p.Leu167Val
NM_001126102.3:c.322C>G (HP) NP_001119574.1:p.Leu108Val