Canonical Allele Identifier: CA496414632

Linked Data

MyVariant Identifiers: chr16:g.72094165C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060266C>G , CM000678.2:g.72060266C>G GRCh38
NC_000016.9:g.72094165C>G , CM000678.1:g.72094165C>G GRCh37
NC_000016.8:g.70651666C>G NCBI36
NG_012651.1:g.10658C>G
NG_030311.1:g.2041C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.597C>G (HP) MANE Select ENSP00000348170.5:p.Thr199=
ENST00000228226.12:c.222C>G (HP) ENSP00000228226.9:p.Thr74=
ENST00000355906.9:c.597C>G (HP) ENSP00000348170.5:p.Thr199=
ENST00000357763.8:c.705C>G (HP) ENSP00000350406.5:p.Thr235=
ENST00000398131.6:c.420C>G (HP) ENSP00000381199.2:p.Thr140=
ENST00000562153.5:c.285-15909G>C (TXNL4B) ENSP00000454635.1:n.285-15909G>C
ENST00000562526.5:c.266-397C>G (HP) ENSP00000454413.1:n.266-397C>G
ENST00000564499.5:c.300C>G (HP) ENSP00000456503.1:p.Thr100=
ENST00000565574.5:c.420C>G (HP) ENSP00000454966.1:p.Thr140=
ENST00000566821.1:n.2236C>G (HP)
ENST00000567185.7:c.589C>G (HP)
ENST00000567612.2:c.472C>G (HP)
ENST00000570083.5:c.420C>G (HP) ENSP00000457629.1:p.Thr140=
ENST00000613898.1:c.222C>G (HP) ENSP00000478279.1:p.Thr74=
NM_001126102.1:c.420C>G (HP) NP_001119574.1:p.Thr140=
NM_005143.3:c.597C>G (HP) NP_005134.1:p.Thr199=
XM_005255922.3:c.420C>G (HP) XP_005255979.2:p.Thr140=
NM_001126102.2:c.420C>G (HP) NP_001119574.1:p.Thr140=
NM_001318138.1:c.420C>G (HP) NP_001305067.1:p.Thr140=
NM_005143.4:c.597C>G (HP) NP_005134.1:p.Thr199=
XM_017023377.2:c.285-15909G>C (TXNL4B) XP_016878866.1:n.285-15909G>C
NM_001318138.2:c.420C>G (HP) NP_001305067.1:p.Thr140=
NM_005143.5:c.597C>G (HP) MANE Select NP_005134.1:p.Thr199=
NM_001126102.3:c.420C>G (HP) NP_001119574.1:p.Thr140=