Canonical Allele Identifier: CA1732225
Gene: TACR1 HGNC NCBI
COSMIC:
COSM6351897 (not active)
MyVariant.info:
GRCh38 chr2:g.75198602A>G
GRCh37 chr2:g.75425728A>G
gnomAD v2:
2:75425728 A / G
gnomAD v3:
2:75198602 A / G
gnomAD v4:
chr2-75198602-A-G
Joint Max Group AF 0.85371202 (AFR)
Genomes Max Group AF 0.84500204 (AFR)
Exomes Max Group AF 0.85938481 (AFR)
dbSNP:
6715729
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75198602A>G , CM000664.2:g.75198602A>G GRCh38
NC_000002.11:g.75425728A>G , CM000664.1:g.75425728A>G GRCh37
NC_000002.10:g.75279236A>G NCBI36
NG_029522.1:g.5918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305249.10:c.333T>C MANE Select ENSP00000303522.4:p.Phe111=
ENST00000305249.9:c.333T>C ENSP00000303522.4:p.Phe111=
ENST00000409848.3:c.333T>C ENSP00000386448.3:p.Phe111=
NM_001058.3:c.333T>C NP_001049.1:p.Phe111=
NM_015727.2:c.333T>C NP_056542.1:p.Phe111=
XR_940257.1:n.108+52142A>G
XR_940257.2:n.109+52142A>G
NM_001058.4:c.333T>C MANE Select NP_001049.1:p.Phe111=
NM_015727.3:c.333T>C NP_056542.1:p.Phe111=
NR_168009.1:n.372+42287A>G
NR_168010.1:n.366+42287A>G
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