Canonical Allele Identifier: CA8159117

Gene: HP TXNL4B

Linked Data

• ClinVar Variation Id: 2267717
• ClinVar RCV Id: RCV004119138
• dbSNP Id: rs562787662
• ExAC: 16:72094032 C / G
• gnomAD v2: 16-72094032-C-G
• gnomAD v3: 16-72060133-C-G
• gnomAD v4: 16-72060133-C-G
• MyVariant Identifiers: chr16:g.72094032C>G (hg19) ; chr16:g.72060133C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.464C>G (HP) MANE Select	ENSP00000348170.5:p.Pro155Arg
ENST00000228226.12:c.94-5C>G (HP)	ENSP00000228226.9:n.94-5C>G
ENST00000355906.9:c.464C>G (HP)	ENSP00000348170.5:p.Pro155Arg
ENST00000357763.8:c.572C>G (HP)	ENSP00000350406.5:p.Pro191Arg
ENST00000398131.6:c.287C>G (HP)	ENSP00000381199.2:p.Pro96Arg
ENST00000562153.5:c.285-15776G>C (TXNL4B)	ENSP00000454635.1:n.285-15776G>C
ENST00000562526.5:c.266-530C>G (HP)	ENSP00000454413.1:n.266-530C>G
ENST00000564499.5:c.266-99C>G (HP)	ENSP00000456503.1:n.266-99C>G
ENST00000565574.5:c.287C>G (HP)	ENSP00000454966.1:p.Pro96Arg
ENST00000566821.1:n.2103C>G (HP)
ENST00000567185.7:c.456C>G (HP)
ENST00000567612.2:c.438-99C>G (HP)
ENST00000570083.5:c.287C>G (HP)	ENSP00000457629.1:p.Pro96Arg
ENST00000613898.1:c.95-6C>G (HP)	ENSP00000478279.1:n.95-6C>G
NM_001126102.1:c.287C>G (HP)	NP_001119574.1:p.Pro96Arg
NM_005143.3:c.464C>G (HP)	NP_005134.1:p.Pro155Arg
XM_005255922.3:c.287C>G (HP)	XP_005255979.2:p.Pro96Arg
NM_001126102.2:c.287C>G (HP)	NP_001119574.1:p.Pro96Arg
NM_001318138.1:c.287C>G (HP)	NP_001305067.1:p.Pro96Arg
NM_005143.4:c.464C>G (HP)	NP_005134.1:p.Pro155Arg
XM_017023377.2:c.285-15776G>C (TXNL4B)	XP_016878866.1:n.285-15776G>C
NM_001318138.2:c.287C>G (HP)	NP_001305067.1:p.Pro96Arg
NM_005143.5:c.464C>G (HP) MANE Select	NP_005134.1:p.Pro155Arg
NM_001126102.3:c.287C>G (HP)	NP_001119574.1:p.Pro96Arg