Canonical Allele Identifier: CA174397
Gene: CTRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161585
ClinVar RCV Id: RCV000149121
dbSNP Id: rs193920783
ExAC: 16:75258605 C / T
gnomAD v2: 16-75258605-C-T
gnomAD v3: 16-75224707-C-T
gnomAD v4: 16-75224707-C-T
COSMIC: COSM1179192
MyVariant Identifiers: chr16:g.75258605C>T (hg19) chr16:g.75224707C>T (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75224707C>T , CM000678.2:g.75224707C>T GRCh38
NC_000016.9:g.75258605C>T , CM000678.1:g.75258605C>T GRCh37
NC_000016.8:g.73816106C>T NCBI36
NG_051057.1:g.10722C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361017.9:c.633C>T MANE Select ENSP00000354294.4:p.Gly211=
ENST00000361017.8:c.633C>T ENSP00000354294.4:p.Gly211=
NM_001906.4:c.633C>T NP_001897.4:p.Gly211=
NM_001329190.1:c.499C>T NP_001316119.1:p.Arg167Ter
NM_001906.5:c.633C>T NP_001897.4:p.Gly211=
NM_001329190.2:c.499C>T NP_001316119.1:p.Arg167Ter
NM_001906.6:c.633C>T MANE Select NP_001897.4:p.Gly211=
Search 100 bp 5'
Search 100 bp 3'