Canonical Allele Identifier: CA496414548

Linked Data

dbSNP Id: rs2041518682
MyVariant Identifiers: chr16:g.72094055C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060156C>T , CM000678.2:g.72060156C>T GRCh38
NC_000016.9:g.72094055C>T , CM000678.1:g.72094055C>T GRCh37
NC_000016.8:g.70651556C>T NCBI36
NG_012651.1:g.10548C>T
NG_030311.1:g.1931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.487C>T (HP) MANE Select ENSP00000348170.5:p.Leu163=
ENST00000228226.12:c.112C>T (HP) ENSP00000228226.9:p.Leu38=
ENST00000355906.9:c.487C>T (HP) ENSP00000348170.5:p.Leu163=
ENST00000357763.8:c.595C>T (HP) ENSP00000350406.5:p.Leu199=
ENST00000398131.6:c.310C>T (HP) ENSP00000381199.2:p.Leu104=
ENST00000562153.5:c.285-15799G>A (TXNL4B) ENSP00000454635.1:n.285-15799G>A
ENST00000562526.5:c.266-507C>T (HP) ENSP00000454413.1:n.266-507C>T
ENST00000564499.5:c.266-76C>T (HP) ENSP00000456503.1:n.266-76C>T
ENST00000565574.5:c.310C>T (HP) ENSP00000454966.1:p.Leu104=
ENST00000566821.1:n.2126C>T (HP)
ENST00000567185.7:c.479C>T (HP)
ENST00000567612.2:c.438-76C>T (HP)
ENST00000570083.5:c.310C>T (HP) ENSP00000457629.1:p.Leu104=
ENST00000613898.1:c.112C>T (HP) ENSP00000478279.1:p.Leu38=
NM_001126102.1:c.310C>T (HP) NP_001119574.1:p.Leu104=
NM_005143.3:c.487C>T (HP) NP_005134.1:p.Leu163=
XM_005255922.3:c.310C>T (HP) XP_005255979.2:p.Leu104=
NM_001126102.2:c.310C>T (HP) NP_001119574.1:p.Leu104=
NM_001318138.1:c.310C>T (HP) NP_001305067.1:p.Leu104=
NM_005143.4:c.487C>T (HP) NP_005134.1:p.Leu163=
XM_017023377.2:c.285-15799G>A (TXNL4B) XP_016878866.1:n.285-15799G>A
NM_001318138.2:c.310C>T (HP) NP_001305067.1:p.Leu104=
NM_005143.5:c.487C>T (HP) MANE Select NP_005134.1:p.Leu163=
NM_001126102.3:c.310C>T (HP) NP_001119574.1:p.Leu104=