Canonical Allele Identifier: CA396676253

Gene: HP TXNL4B

Linked Data

• MyVariant Identifiers: chr16:g.72094056T>A (hg19) ; chr16:g.72060157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060157T>A , CM000678.2:g.72060157T>A	GRCh38
NC_000016.9:g.72094056T>A , CM000678.1:g.72094056T>A	GRCh37
NC_000016.8:g.70651557T>A	NCBI36
NG_012651.1:g.10549T>A
NG_030311.1:g.1932T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.488T>A (HP) MANE Select	ENSP00000348170.5:p.Leu163Gln
ENST00000228226.12:c.113T>A (HP)	ENSP00000228226.9:p.Leu38Gln
ENST00000355906.9:c.488T>A (HP)	ENSP00000348170.5:p.Leu163Gln
ENST00000357763.8:c.596T>A (HP)	ENSP00000350406.5:p.Leu199Gln
ENST00000398131.6:c.311T>A (HP)	ENSP00000381199.2:p.Leu104Gln
ENST00000562153.5:c.285-15800A>T (TXNL4B)	ENSP00000454635.1:n.285-15800A>T
ENST00000562526.5:c.266-506T>A (HP)	ENSP00000454413.1:n.266-506T>A
ENST00000564499.5:c.266-75T>A (HP)	ENSP00000456503.1:n.266-75T>A
ENST00000565574.5:c.311T>A (HP)	ENSP00000454966.1:p.Leu104Gln
ENST00000566821.1:n.2127T>A (HP)
ENST00000567185.7:c.480T>A (HP)
ENST00000567612.2:c.438-75T>A (HP)
ENST00000570083.5:c.311T>A (HP)	ENSP00000457629.1:p.Leu104Gln
ENST00000613898.1:c.113T>A (HP)	ENSP00000478279.1:p.Leu38Gln
NM_001126102.1:c.311T>A (HP)	NP_001119574.1:p.Leu104Gln
NM_005143.3:c.488T>A (HP)	NP_005134.1:p.Leu163Gln
XM_005255922.3:c.311T>A (HP)	XP_005255979.2:p.Leu104Gln
NM_001126102.2:c.311T>A (HP)	NP_001119574.1:p.Leu104Gln
NM_001318138.1:c.311T>A (HP)	NP_001305067.1:p.Leu104Gln
NM_005143.4:c.488T>A (HP)	NP_005134.1:p.Leu163Gln
XM_017023377.2:c.285-15800A>T (TXNL4B)	XP_016878866.1:n.285-15800A>T
NM_001318138.2:c.311T>A (HP)	NP_001305067.1:p.Leu104Gln
NM_005143.5:c.488T>A (HP) MANE Select	NP_005134.1:p.Leu163Gln
NM_001126102.3:c.311T>A (HP)	NP_001119574.1:p.Leu104Gln