Canonical Allele Identifier: CA344456223

Gene: AVPR1B

Linked Data

• MyVariant Identifiers: chr1:g.206224630C>A (hg19) ; chr1:g.206116701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.206116701G>T , CM000663.2:g.206116701G>T	GRCh38
NC_000001.10:g.206224630C>A , CM000663.1:g.206224630C>A	GRCh37
NC_000001.9:g.204391253C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367126.5:c.190C>A MANE Select	ENSP00000356094.4:p.Arg64Ser
ENST00000367126.4:c.190C>A	ENSP00000356094.4:p.Arg64Ser
ENST00000612906.1:n.36+963C>A
NM_000707.3:c.190C>A	NP_000698.1:p.Arg64Ser
NM_000707.4:c.190C>A	NP_000698.1:p.Arg64Ser
NM_000707.5:c.190C>A MANE Select	NP_000698.1:p.Arg64Ser