Canonical Allele Identifier: CA396677620

Gene: HP TXNL4B

Linked Data

• gnomAD v4: 16-72060418-T-C
• MyVariant Identifiers: chr16:g.72094317T>C (hg19) ; chr16:g.72060418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060418T>C , CM000678.2:g.72060418T>C	GRCh38
NC_000016.9:g.72094317T>C , CM000678.1:g.72094317T>C	GRCh37
NC_000016.8:g.70651818T>C	NCBI36
NG_012651.1:g.10810T>C
NG_030311.1:g.2193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.749T>C (HP) MANE Select	ENSP00000348170.5:p.Ile250Thr
ENST00000228226.12:c.374T>C (HP)	ENSP00000228226.9:p.Ile125Thr
ENST00000355906.9:c.749T>C (HP)	ENSP00000348170.5:p.Ile250Thr
ENST00000357763.8:c.857T>C (HP)	ENSP00000350406.5:p.Ile286Thr
ENST00000398131.6:c.572T>C (HP)	ENSP00000381199.2:p.Ile191Thr
ENST00000562153.5:c.285-16061A>G (TXNL4B)	ENSP00000454635.1:n.285-16061A>G
ENST00000562526.5:c.266-245T>C (HP)	ENSP00000454413.1:n.266-245T>C
ENST00000564499.5:c.452T>C (HP)	ENSP00000456503.1:p.Ile151Thr
ENST00000565574.5:c.572T>C (HP)	ENSP00000454966.1:p.Ile191Thr
ENST00000566821.1:n.2388T>C (HP)
ENST00000567185.7:c.741T>C (HP)
ENST00000567612.2:c.624T>C (HP)
ENST00000570083.5:c.572T>C (HP)	ENSP00000457629.1:p.Ile191Thr
ENST00000613898.1:c.374T>C (HP)	ENSP00000478279.1:p.Ile125Thr
NM_001126102.1:c.572T>C (HP)	NP_001119574.1:p.Ile191Thr
NM_005143.3:c.749T>C (HP)	NP_005134.1:p.Ile250Thr
XM_005255922.3:c.572T>C (HP)	XP_005255979.2:p.Ile191Thr
NM_001126102.2:c.572T>C (HP)	NP_001119574.1:p.Ile191Thr
NM_001318138.1:c.572T>C (HP)	NP_001305067.1:p.Ile191Thr
NM_005143.4:c.749T>C (HP)	NP_005134.1:p.Ile250Thr
XM_017023377.2:c.285-16061A>G (TXNL4B)	XP_016878866.1:n.285-16061A>G
NM_001318138.2:c.572T>C (HP)	NP_001305067.1:p.Ile191Thr
NM_005143.5:c.749T>C (HP) MANE Select	NP_005134.1:p.Ile250Thr
NM_001126102.3:c.572T>C (HP)	NP_001119574.1:p.Ile191Thr