Canonical Allele Identifier: CA396677616

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs1409568797
• gnomAD v2: 16-72094316-A-G
• gnomAD v4: 16-72060417-A-G
• MyVariant Identifiers: chr16:g.72094316A>G (hg19) ; chr16:g.72060417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060417A>G , CM000678.2:g.72060417A>G	GRCh38
NC_000016.9:g.72094316A>G , CM000678.1:g.72094316A>G	GRCh37
NC_000016.8:g.70651817A>G	NCBI36
NG_012651.1:g.10809A>G
NG_030311.1:g.2192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.748A>G (HP) MANE Select	ENSP00000348170.5:p.Ile250Val
ENST00000228226.12:c.373A>G (HP)	ENSP00000228226.9:p.Ile125Val
ENST00000355906.9:c.748A>G (HP)	ENSP00000348170.5:p.Ile250Val
ENST00000357763.8:c.856A>G (HP)	ENSP00000350406.5:p.Ile286Val
ENST00000398131.6:c.571A>G (HP)	ENSP00000381199.2:p.Ile191Val
ENST00000562153.5:c.285-16060T>C (TXNL4B)	ENSP00000454635.1:n.285-16060T>C
ENST00000562526.5:c.266-246A>G (HP)	ENSP00000454413.1:n.266-246A>G
ENST00000564499.5:c.451A>G (HP)	ENSP00000456503.1:p.Ile151Val
ENST00000565574.5:c.571A>G (HP)	ENSP00000454966.1:p.Ile191Val
ENST00000566821.1:n.2387A>G (HP)
ENST00000567185.7:c.740A>G (HP)
ENST00000567612.2:c.623A>G (HP)
ENST00000570083.5:c.571A>G (HP)	ENSP00000457629.1:p.Ile191Val
ENST00000613898.1:c.373A>G (HP)	ENSP00000478279.1:p.Ile125Val
NM_001126102.1:c.571A>G (HP)	NP_001119574.1:p.Ile191Val
NM_005143.3:c.748A>G (HP)	NP_005134.1:p.Ile250Val
XM_005255922.3:c.571A>G (HP)	XP_005255979.2:p.Ile191Val
NM_001126102.2:c.571A>G (HP)	NP_001119574.1:p.Ile191Val
NM_001318138.1:c.571A>G (HP)	NP_001305067.1:p.Ile191Val
NM_005143.4:c.748A>G (HP)	NP_005134.1:p.Ile250Val
XM_017023377.2:c.285-16060T>C (TXNL4B)	XP_016878866.1:n.285-16060T>C
NM_001318138.2:c.571A>G (HP)	NP_001305067.1:p.Ile191Val
NM_005143.5:c.748A>G (HP) MANE Select	NP_005134.1:p.Ile250Val
NM_001126102.3:c.571A>G (HP)	NP_001119574.1:p.Ile191Val