Canonical Allele Identifier: CA358812239

Gene: HPGD

Linked Data

• MyVariant Identifiers: chr4:g.175414453G>C (hg19) ; chr4:g.174493302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493302G>C , CM000666.2:g.174493302G>C	GRCh38
NC_000004.11:g.175414453G>C , CM000666.1:g.175414453G>C	GRCh37
NC_000004.10:g.175651028G>C	NCBI36
NG_011689.1:g.34340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.511C>G MANE Select	ENSP00000296522.6:p.Leu171Val
ENST00000296521.11:c.499-1208C>G	ENSP00000296521.7:n.499-1208C>G
ENST00000296522.10:c.511C>G	ENSP00000296522.6:p.Leu171Val
ENST00000422112.6:c.307C>G	ENSP00000398720.2:p.Leu103Val
ENST00000506910.5:c.148C>G	ENSP00000423066.1:p.Leu50Val
ENST00000508330.5:c.*140C>G	ENSP00000425741.1:n.*140C>G
ENST00000509512.1:n.160C>G
ENST00000510835.5:c.*273C>G	ENSP00000427699.1:n.*273C>G
ENST00000510901.5:c.148C>G	ENSP00000422418.1:p.Leu50Val
ENST00000511499.5:n.295C>G
ENST00000514584.5:c.148C>G	ENSP00000423110.1:p.Leu50Val
ENST00000541923.5:c.148C>G	ENSP00000438017.1:p.Leu50Val
ENST00000542498.5:c.422-1208C>G	ENSP00000443644.1:n.422-1208C>G
NM_000860.5:c.511C>G	NP_000851.2:p.Leu171Val
NM_001145816.2:c.499-1208C>G	NP_001139288.1:n.499-1208C>G
NM_001256301.1:c.148C>G	NP_001243230.1:p.Leu50Val
NM_001256305.1:c.422-1208C>G	NP_001243234.1:n.422-1208C>G
NM_001256306.1:c.307C>G	NP_001243235.1:p.Leu103Val
NM_001256307.1:c.148C>G	NP_001243236.1:p.Leu50Val
NM_000860.6:c.511C>G MANE Select	NP_000851.2:p.Leu171Val
NM_001145816.3:c.499-1208C>G	NP_001139288.1:n.499-1208C>G
NM_001256305.2:c.422-1208C>G	NP_001243234.1:n.422-1208C>G
NM_001256306.2:c.307C>G	NP_001243235.1:p.Leu103Val
NM_001256307.2:c.148C>G	NP_001243236.1:p.Leu50Val