Canonical Allele Identifier: CA396677743

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs1196326399
• gnomAD v2: 16-72094352-G-C
• gnomAD v4: 16-72060453-G-C
• MyVariant Identifiers: chr16:g.72094352G>C (hg19) ; chr16:g.72060453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060453G>C , CM000678.2:g.72060453G>C	GRCh38
NC_000016.9:g.72094352G>C , CM000678.1:g.72094352G>C	GRCh37
NC_000016.8:g.70651853G>C	NCBI36
NG_012651.1:g.10845G>C
NG_030311.1:g.2228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.784G>C (HP) MANE Select	ENSP00000348170.5:p.Val262Leu
ENST00000228226.12:c.409G>C (HP)	ENSP00000228226.9:p.Val137Leu
ENST00000355906.9:c.784G>C (HP)	ENSP00000348170.5:p.Val262Leu
ENST00000357763.8:c.892G>C (HP)	ENSP00000350406.5:p.Val298Leu
ENST00000398131.6:c.607G>C (HP)	ENSP00000381199.2:p.Val203Leu
ENST00000562153.5:c.285-16096C>G (TXNL4B)	ENSP00000454635.1:n.285-16096C>G
ENST00000562526.5:c.266-210G>C (HP)	ENSP00000454413.1:n.266-210G>C
ENST00000564499.5:c.487G>C (HP)	ENSP00000456503.1:p.Val163Leu
ENST00000565574.5:c.607G>C (HP)	ENSP00000454966.1:p.Val203Leu
ENST00000566821.1:n.2423G>C (HP)
ENST00000567185.7:c.776G>C (HP)
ENST00000567612.2:c.659G>C (HP)
ENST00000570083.5:c.607G>C (HP)	ENSP00000457629.1:p.Val203Leu
ENST00000613898.1:c.409G>C (HP)	ENSP00000478279.1:p.Val137Leu
NM_001126102.1:c.607G>C (HP)	NP_001119574.1:p.Val203Leu
NM_005143.3:c.784G>C (HP)	NP_005134.1:p.Val262Leu
XM_005255922.3:c.607G>C (HP)	XP_005255979.2:p.Val203Leu
NM_001126102.2:c.607G>C (HP)	NP_001119574.1:p.Val203Leu
NM_001318138.1:c.607G>C (HP)	NP_001305067.1:p.Val203Leu
NM_005143.4:c.784G>C (HP)	NP_005134.1:p.Val262Leu
XM_017023377.2:c.285-16096C>G (TXNL4B)	XP_016878866.1:n.285-16096C>G
NM_001318138.2:c.607G>C (HP)	NP_001305067.1:p.Val203Leu
NM_005143.5:c.784G>C (HP) MANE Select	NP_005134.1:p.Val262Leu
NM_001126102.3:c.607G>C (HP)	NP_001119574.1:p.Val203Leu