Canonical Allele Identifier: CA344455267
Gene: AVPR1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.206224812G>A (hg19) chr1:g.206116519C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116519C>T , CM000663.2:g.206116519C>T GRCh38
NC_000001.10:g.206224812G>A , CM000663.1:g.206224812G>A GRCh37
NC_000001.9:g.204391435G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.372G>A MANE Select ENSP00000356094.4:p.Met124Ile
ENST00000367126.4:c.372G>A ENSP00000356094.4:p.Met124Ile
ENST00000612906.1:n.36+1145G>A
NM_000707.3:c.372G>A NP_000698.1:p.Met124Ile
NM_000707.4:c.372G>A NP_000698.1:p.Met124Ile
NM_000707.5:c.372G>A MANE Select NP_000698.1:p.Met124Ile
Search 100 bp 5'
Search 100 bp 3'