Canonical Allele Identifier: CA396677948

Gene: HP TXNL4B

Linked Data

• gnomAD v4: 16-72060529-A-T
• MyVariant Identifiers: chr16:g.72094428A>T (hg19) ; chr16:g.72060529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060529A>T , CM000678.2:g.72060529A>T	GRCh38
NC_000016.9:g.72094428A>T , CM000678.1:g.72094428A>T	GRCh37
NC_000016.8:g.70651929A>T	NCBI36
NG_012651.1:g.10921A>T
NG_030311.1:g.2304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.860A>T (HP) MANE Select	ENSP00000348170.5:p.Asn287Ile
ENST00000228226.12:c.485A>T (HP)	ENSP00000228226.9:p.Asn162Ile
ENST00000355906.9:c.860A>T (HP)	ENSP00000348170.5:p.Asn287Ile
ENST00000357763.8:c.968A>T (HP)	ENSP00000350406.5:p.Asn323Ile
ENST00000398131.6:c.683A>T (HP)	ENSP00000381199.2:p.Asn228Ile
ENST00000562153.5:c.285-16172T>A (TXNL4B)	ENSP00000454635.1:n.285-16172T>A
ENST00000562526.5:c.266-134A>T (HP)	ENSP00000454413.1:n.266-134A>T
ENST00000564499.5:c.563A>T (HP)	ENSP00000456503.1:p.Asn188Ile
ENST00000565574.5:c.683A>T (HP)	ENSP00000454966.1:p.Asn228Ile
ENST00000566821.1:n.2499A>T (HP)
ENST00000567185.7:c.852A>T (HP)
ENST00000567612.2:c.735A>T (HP)
ENST00000570083.5:c.683A>T (HP)	ENSP00000457629.1:p.Asn228Ile
ENST00000613898.1:c.485A>T (HP)	ENSP00000478279.1:p.Asn162Ile
NM_001126102.1:c.683A>T (HP)	NP_001119574.1:p.Asn228Ile
NM_005143.3:c.860A>T (HP)	NP_005134.1:p.Asn287Ile
XM_005255922.3:c.683A>T (HP)	XP_005255979.2:p.Asn228Ile
NM_001126102.2:c.683A>T (HP)	NP_001119574.1:p.Asn228Ile
NM_001318138.1:c.683A>T (HP)	NP_001305067.1:p.Asn228Ile
NM_005143.4:c.860A>T (HP)	NP_005134.1:p.Asn287Ile
XM_017023377.2:c.285-16172T>A (TXNL4B)	XP_016878866.1:n.285-16172T>A
NM_001318138.2:c.683A>T (HP)	NP_001305067.1:p.Asn228Ile
NM_005143.5:c.860A>T (HP) MANE Select	NP_005134.1:p.Asn287Ile
NM_001126102.3:c.683A>T (HP)	NP_001119574.1:p.Asn228Ile