Canonical Allele Identifier: CA170750

Gene: HPGD

Linked Data

• ClinVar Variation Id: 156026
• ClinVar RCV Id: RCV000144085 ; RCV003727619
• dbSNP Id: rs577045722
• ExAC: 4:175443602 T / A
• gnomAD v2: 4-175443602-T-A
• gnomAD v3: 4-174522451-T-A
• gnomAD v4: 4-174522451-T-A
• MyVariant Identifiers: chr4:g.175443602T>A (hg19) ; chr4:g.174522451T>A (hg38)
• PubMed: PMID:19306095

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174522451T>A , CM000666.2:g.174522451T>A	GRCh38
NC_000004.11:g.175443602T>A , CM000666.1:g.175443602T>A	GRCh37
NC_000004.10:g.175680177T>A	NCBI36
NG_011689.1:g.5191A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.1A>T MANE Select	ENSP00000296522.6:p.Met1Leu
ENST00000296521.11:c.1A>T	ENSP00000296521.7:p.Met1Leu
ENST00000296522.10:c.1A>T	ENSP00000296522.6:p.Met1Leu
ENST00000422112.6:c.1A>T	ENSP00000398720.2:p.Met1Leu
ENST00000504433.1:c.1A>T	ENSP00000420892.1:p.Met1Leu
ENST00000506910.5:c.-271+173A>T	ENSP00000423066.1:n.-271+173A>T
ENST00000508330.5:c.1A>T	ENSP00000425741.1:p.Met1Leu
ENST00000510835.5:c.1A>T	ENSP00000427699.1:p.Met1Leu
ENST00000510901.5:c.-271+173A>T	ENSP00000422418.1:n.-271+173A>T
ENST00000541923.5:c.-256A>T	ENSP00000438017.1:n.-256A>T
ENST00000542498.5:c.1A>T	ENSP00000443644.1:p.Met1Leu
NM_000860.5:c.1A>T	NP_000851.2:p.Met1Leu
NM_001145816.2:c.1A>T	NP_001139288.1:p.Met1Leu
NM_001256301.1:c.-271+173A>T	NP_001243230.1:n.-271+173A>T
NM_001256305.1:c.1A>T	NP_001243234.1:p.Met1Leu
NM_001256306.1:c.1A>T	NP_001243235.1:p.Met1Leu
NM_001256307.1:c.-256A>T	NP_001243236.1:n.-256A>T
XM_011531907.1:c.1A>T	XP_011530209.1:p.Met1Leu
XR_938728.1:n.443A>T
NM_001363574.1:c.1A>T	NP_001350503.1:p.Met1Leu
XR_938728.2:n.38A>T
NM_000860.6:c.1A>T MANE Select	NP_000851.2:p.Met1Leu
NM_001363574.2:c.1A>T	NP_001350503.1:p.Met1Leu
NM_001145816.3:c.1A>T	NP_001139288.1:p.Met1Leu
NM_001256305.2:c.1A>T	NP_001243234.1:p.Met1Leu
NM_001256306.2:c.1A>T	NP_001243235.1:p.Met1Leu
NM_001256307.2:c.-256A>T	NP_001243236.1:n.-256A>T