Canonical Allele Identifier: CA344456289
Gene: AVPR1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116719T>G , CM000663.2:g.206116719T>G GRCh38
NC_000001.10:g.206224612A>C , CM000663.1:g.206224612A>C GRCh37
NC_000001.9:g.204391235A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367126.5:c.172A>C MANE Select ENSP00000356094.4:p.Thr58Pro
ENST00000367126.4:c.172A>C ENSP00000356094.4:p.Thr58Pro
ENST00000612906.1:n.36+945A>C
NM_000707.3:c.172A>C NP_000698.1:p.Thr58Pro
NM_000707.4:c.172A>C NP_000698.1:p.Thr58Pro
NM_000707.5:c.172A>C MANE Select NP_000698.1:p.Thr58Pro