Canonical Allele Identifier: CA3142228

Gene: HPGD

Linked Data

• dbSNP Id: rs745754692
• ExAC: 4:175414452 A / G
• gnomAD v4: 4-174493301-A-G
• MyVariant Identifiers: chr4:g.175414452A>G (hg19) ; chr4:g.174493301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493301A>G , CM000666.2:g.174493301A>G	GRCh38
NC_000004.11:g.175414452A>G , CM000666.1:g.175414452A>G	GRCh37
NC_000004.10:g.175651027A>G	NCBI36
NG_011689.1:g.34341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.512T>C MANE Select	ENSP00000296522.6:p.Leu171Pro
ENST00000296521.11:c.499-1207T>C	ENSP00000296521.7:n.499-1207T>C
ENST00000296522.10:c.512T>C	ENSP00000296522.6:p.Leu171Pro
ENST00000422112.6:c.308T>C	ENSP00000398720.2:p.Leu103Pro
ENST00000506910.5:c.149T>C	ENSP00000423066.1:p.Leu50Pro
ENST00000508330.5:c.*141T>C	ENSP00000425741.1:n.*141T>C
ENST00000509512.1:n.161T>C
ENST00000510835.5:c.*274T>C	ENSP00000427699.1:n.*274T>C
ENST00000510901.5:c.149T>C	ENSP00000422418.1:p.Leu50Pro
ENST00000511499.5:n.296T>C
ENST00000514584.5:c.149T>C	ENSP00000423110.1:p.Leu50Pro
ENST00000541923.5:c.149T>C	ENSP00000438017.1:p.Leu50Pro
ENST00000542498.5:c.422-1207T>C	ENSP00000443644.1:n.422-1207T>C
NM_000860.5:c.512T>C	NP_000851.2:p.Leu171Pro
NM_001145816.2:c.499-1207T>C	NP_001139288.1:n.499-1207T>C
NM_001256301.1:c.149T>C	NP_001243230.1:p.Leu50Pro
NM_001256305.1:c.422-1207T>C	NP_001243234.1:n.422-1207T>C
NM_001256306.1:c.308T>C	NP_001243235.1:p.Leu103Pro
NM_001256307.1:c.149T>C	NP_001243236.1:p.Leu50Pro
NM_000860.6:c.512T>C MANE Select	NP_000851.2:p.Leu171Pro
NM_001145816.3:c.499-1207T>C	NP_001139288.1:n.499-1207T>C
NM_001256305.2:c.422-1207T>C	NP_001243234.1:n.422-1207T>C
NM_001256306.2:c.308T>C	NP_001243235.1:p.Leu103Pro
NM_001256307.2:c.149T>C	NP_001243236.1:p.Leu50Pro