Canonical Allele Identifier: CA8159118

Linked Data

dbSNP Id: rs562787662

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060133C>T , CM000678.2:g.72060133C>T GRCh38
NC_000016.9:g.72094032C>T , CM000678.1:g.72094032C>T GRCh37
NC_000016.8:g.70651533C>T NCBI36
NG_012651.1:g.10525C>T
NG_030311.1:g.1908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.464C>T (HP) MANE Select ENSP00000348170.5:p.Pro155Leu
ENST00000228226.12:c.94-5C>T (HP) ENSP00000228226.9:n.94-5C>T
ENST00000355906.9:c.464C>T (HP) ENSP00000348170.5:p.Pro155Leu
ENST00000357763.8:c.572C>T (HP) ENSP00000350406.5:p.Pro191Leu
ENST00000398131.6:c.287C>T (HP) ENSP00000381199.2:p.Pro96Leu
ENST00000562153.5:c.285-15776G>A (TXNL4B) ENSP00000454635.1:n.285-15776G>A
ENST00000562526.5:c.266-530C>T (HP) ENSP00000454413.1:n.266-530C>T
ENST00000564499.5:c.266-99C>T (HP) ENSP00000456503.1:n.266-99C>T
ENST00000565574.5:c.287C>T (HP) ENSP00000454966.1:p.Pro96Leu
ENST00000566821.1:n.2103C>T (HP)
ENST00000567185.7:c.456C>T (HP)
ENST00000567612.2:c.438-99C>T (HP)
ENST00000570083.5:c.287C>T (HP) ENSP00000457629.1:p.Pro96Leu
ENST00000613898.1:c.95-6C>T (HP) ENSP00000478279.1:n.95-6C>T
NM_001126102.1:c.287C>T (HP) NP_001119574.1:p.Pro96Leu
NM_005143.3:c.464C>T (HP) NP_005134.1:p.Pro155Leu
XM_005255922.3:c.287C>T (HP) XP_005255979.2:p.Pro96Leu
NM_001126102.2:c.287C>T (HP) NP_001119574.1:p.Pro96Leu
NM_001318138.1:c.287C>T (HP) NP_001305067.1:p.Pro96Leu
NM_005143.4:c.464C>T (HP) NP_005134.1:p.Pro155Leu
XM_017023377.2:c.285-15776G>A (TXNL4B) XP_016878866.1:n.285-15776G>A
NM_001318138.2:c.287C>T (HP) NP_001305067.1:p.Pro96Leu
NM_005143.5:c.464C>T (HP) MANE Select NP_005134.1:p.Pro155Leu
NM_001126102.3:c.287C>T (HP) NP_001119574.1:p.Pro96Leu