Canonical Allele Identifier: CA344583179

Gene: HSD11B1 HSD11B1-AS1

Linked Data

• MyVariant Identifiers: chr1:g.209880456T>C (hg19) ; chr1:g.209707111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209707111T>C , CM000663.2:g.209707111T>C	GRCh38
NC_000001.10:g.209880456T>C , CM000663.1:g.209880456T>C	GRCh37
NC_000001.9:g.207947079T>C	NCBI36
NG_012081.1:g.25907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367027.5:c.500T>C (HSD11B1) MANE Select	ENSP00000355994.3:p.Val167Ala
ENST00000261465.5:c.500T>C (HSD11B1)	ENSP00000261465.2:p.Val167Ala
ENST00000367027.4:c.500T>C (HSD11B1)	ENSP00000355994.3:p.Val167Ala
ENST00000367028.6:c.500T>C (HSD11B1)	ENSP00000355995.1:p.Val167Ala
ENST00000615289.4:c.500T>C (HSD11B1)	ENSP00000478430.1:p.Val167Ala
NM_001206741.1:c.500T>C (HSD11B1)	NP_001193670.1:p.Val167Ala
NM_005525.3:c.500T>C (HSD11B1)	NP_005516.1:p.Val167Ala
NM_181755.2:c.500T>C (HSD11B1)	NP_861420.1:p.Val167Ala
XR_922542.1:n.3234+16919A>G (HSD11B1-AS1)
XR_922543.1:n.3225+16919A>G (HSD11B1-AS1)
XR_922547.1:n.3090+35386A>G (HSD11B1-AS1)
XR_922549.1:n.125-44050A>G (HSD11B1-AS1)
NR_134509.1:n.96+16919A>G (HSD11B1-AS1)
NR_134510.1:n.66+35386A>G (HSD11B1-AS1)
NM_005525.4:c.500T>C (HSD11B1) MANE Select	NP_005516.1:p.Val167Ala
NM_001206741.2:c.500T>C (HSD11B1)	NP_001193670.1:p.Val167Ala
NM_181755.3:c.500T>C (HSD11B1)	NP_861420.1:p.Val167Ala