Canonical Allele Identifier: CA353698261

Gene: POU1F1

Linked Data

• dbSNP Id: rs1165166324
• gnomAD v2: 3-87309186-A-G
• gnomAD v4: 3-87260036-A-G
• MyVariant Identifiers: chr3:g.87309186A>G (hg19) ; chr3:g.87260036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260036A>G , CM000665.2:g.87260036A>G	GRCh38
NC_000003.11:g.87309186A>G , CM000665.1:g.87309186A>G	GRCh37
NC_000003.10:g.87391876A>G	NCBI36
NG_008225.2:g.21552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.812T>C	ENSP00000342931.3:p.Met271Thr
ENST00000350375.7:c.734T>C MANE Select	ENSP00000263781.2:p.Met245Thr
ENST00000344265.7:c.812T>C	ENSP00000342931.3:p.Met271Thr
ENST00000350375.6:c.734T>C	ENSP00000263781.2:p.Met245Thr
ENST00000560656.1:c.508T>C	ENSP00000452610.1:p.Ter170Arg
ENST00000561167.5:c.509T>C	ENSP00000454072.1:p.Met170Thr
NM_000306.3:c.734T>C	NP_000297.1:p.Met245Thr
NM_001122757.2:c.812T>C	NP_001116229.1:p.Met271Thr
NM_000306.4:c.734T>C MANE Select	NP_000297.1:p.Met245Thr
NM_001122757.3:c.812T>C	NP_001116229.1:p.Met271Thr