Canonical Allele Identifier: CA396678045

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs1452551845
• gnomAD v3: 16-72060571-T-C
• gnomAD v4: 16-72060571-T-C
• MyVariant Identifiers: chr16:g.72094470T>C (hg19) ; chr16:g.72060571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060571T>C , CM000678.2:g.72060571T>C	GRCh38
NC_000016.9:g.72094470T>C , CM000678.1:g.72094470T>C	GRCh37
NC_000016.8:g.70651971T>C	NCBI36
NG_012651.1:g.10963T>C
NG_030311.1:g.2346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.902T>C (HP) MANE Select	ENSP00000348170.5:p.Leu301Pro
ENST00000228226.12:c.527T>C (HP)	ENSP00000228226.9:p.Leu176Pro
ENST00000355906.9:c.902T>C (HP)	ENSP00000348170.5:p.Leu301Pro
ENST00000357763.8:c.1010T>C (HP)	ENSP00000350406.5:p.Leu337Pro
ENST00000398131.6:c.725T>C (HP)	ENSP00000381199.2:p.Leu242Pro
ENST00000562153.5:c.285-16214A>G (TXNL4B)	ENSP00000454635.1:n.285-16214A>G
ENST00000562526.5:c.266-92T>C (HP)	ENSP00000454413.1:n.266-92T>C
ENST00000564499.5:c.605T>C (HP)	ENSP00000456503.1:p.Leu202Pro
ENST00000565574.5:c.725T>C (HP)	ENSP00000454966.1:p.Leu242Pro
ENST00000566821.1:n.2541T>C (HP)
ENST00000567185.7:c.894T>C (HP)
ENST00000567612.2:c.777T>C (HP)
ENST00000570083.5:c.725T>C (HP)	ENSP00000457629.1:p.Leu242Pro
ENST00000613898.1:c.527T>C (HP)	ENSP00000478279.1:p.Leu176Pro
NM_001126102.1:c.725T>C (HP)	NP_001119574.1:p.Leu242Pro
NM_005143.3:c.902T>C (HP)	NP_005134.1:p.Leu301Pro
XM_005255922.3:c.725T>C (HP)	XP_005255979.2:p.Leu242Pro
NM_001126102.2:c.725T>C (HP)	NP_001119574.1:p.Leu242Pro
NM_001318138.1:c.725T>C (HP)	NP_001305067.1:p.Leu242Pro
NM_005143.4:c.902T>C (HP)	NP_005134.1:p.Leu301Pro
XM_017023377.2:c.285-16214A>G (TXNL4B)	XP_016878866.1:n.285-16214A>G
NM_001318138.2:c.725T>C (HP)	NP_001305067.1:p.Leu242Pro
NM_005143.5:c.902T>C (HP) MANE Select	NP_005134.1:p.Leu301Pro
NM_001126102.3:c.725T>C (HP)	NP_001119574.1:p.Leu242Pro