Canonical Allele Identifier: CA396676384

Gene: HP TXNL4B

Linked Data

• MyVariant Identifiers: chr16:g.72094085T>A (hg19) ; chr16:g.72060186T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060186T>A , CM000678.2:g.72060186T>A	GRCh38
NC_000016.9:g.72094085T>A , CM000678.1:g.72094085T>A	GRCh37
NC_000016.8:g.70651586T>A	NCBI36
NG_012651.1:g.10578T>A
NG_030311.1:g.1961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.517T>A (HP) MANE Select	ENSP00000348170.5:p.Phe173Ile
ENST00000228226.12:c.142T>A (HP)	ENSP00000228226.9:p.Phe48Ile
ENST00000355906.9:c.517T>A (HP)	ENSP00000348170.5:p.Phe173Ile
ENST00000357763.8:c.625T>A (HP)	ENSP00000350406.5:p.Phe209Ile
ENST00000398131.6:c.340T>A (HP)	ENSP00000381199.2:p.Phe114Ile
ENST00000562153.5:c.285-15829A>T (TXNL4B)	ENSP00000454635.1:n.285-15829A>T
ENST00000562526.5:c.266-477T>A (HP)	ENSP00000454413.1:n.266-477T>A
ENST00000564499.5:c.266-46T>A (HP)	ENSP00000456503.1:n.266-46T>A
ENST00000565574.5:c.340T>A (HP)	ENSP00000454966.1:p.Phe114Ile
ENST00000566821.1:n.2156T>A (HP)
ENST00000567185.7:c.509T>A (HP)
ENST00000567612.2:c.438-46T>A (HP)
ENST00000570083.5:c.340T>A (HP)	ENSP00000457629.1:p.Phe114Ile
ENST00000613898.1:c.142T>A (HP)	ENSP00000478279.1:p.Phe48Ile
NM_001126102.1:c.340T>A (HP)	NP_001119574.1:p.Phe114Ile
NM_005143.3:c.517T>A (HP)	NP_005134.1:p.Phe173Ile
XM_005255922.3:c.340T>A (HP)	XP_005255979.2:p.Phe114Ile
NM_001126102.2:c.340T>A (HP)	NP_001119574.1:p.Phe114Ile
NM_001318138.1:c.340T>A (HP)	NP_001305067.1:p.Phe114Ile
NM_005143.4:c.517T>A (HP)	NP_005134.1:p.Phe173Ile
XM_017023377.2:c.285-15829A>T (TXNL4B)	XP_016878866.1:n.285-15829A>T
NM_001318138.2:c.340T>A (HP)	NP_001305067.1:p.Phe114Ile
NM_005143.5:c.517T>A (HP) MANE Select	NP_005134.1:p.Phe173Ile
NM_001126102.3:c.340T>A (HP)	NP_001119574.1:p.Phe114Ile