Canonical Allele Identifier: CA10021036

Gene: PIGP

Linked Data

• ClinVar Variation Id: 1908311
• ClinVar RCV Id: RCV002581467
• dbSNP Id: rs146570408
• ExAC: 21:38437980 A / G
• gnomAD v2: 21-38437980-A-G
• gnomAD v3: 21-37065680-A-G
• gnomAD v4: 21-37065680-A-G
• MyVariant Identifiers: chr21:g.38437980A>G (hg19) ; chr21:g.37065680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065680A>G , CM000683.2:g.37065680A>G	GRCh38
NC_000021.8:g.38437980A>G , CM000683.1:g.38437980A>G	GRCh37
NC_000021.7:g.37359850A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.307T>C MANE Select	ENSP00000353719.3:p.Tyr103His
ENST00000329667.7:n.256T>C
ENST00000360525.8:c.307T>C	ENSP00000353719.3:p.Tyr103His
ENST00000399098.5:c.229T>C	ENSP00000382049.1:p.Tyr77His
ENST00000399102.5:c.307T>C	ENSP00000382053.1:p.Tyr103His
ENST00000399103.5:c.307T>C	ENSP00000382054.1:p.Tyr103His
ENST00000464265.5:c.379T>C	ENSP00000420037.1:p.Tyr127His
NM_153681.2:c.379T>C	NP_710148.1:p.Tyr127His
NM_153682.2:c.307T>C	NP_710149.1:p.Tyr103His
NR_028352.1:n.654T>C
XM_005260990.3:c.307T>C	XP_005261047.1:p.Tyr103His
XM_011529595.1:c.307T>C	XP_011527897.1:p.Tyr103His
XM_011529596.1:c.307T>C	XP_011527898.1:p.Tyr103His
NM_001320480.1:c.307T>C	NP_001307409.1:p.Tyr103His
NM_016430.3:c.229T>C	NP_057514.2:p.Tyr77His
XM_017028365.1:c.229T>C	XP_016883854.1:p.Tyr77His
NM_001320480.2:c.307T>C	NP_001307409.1:p.Tyr103His
NM_016430.4:c.229T>C	NP_057514.2:p.Tyr77His
NM_153682.3:c.307T>C MANE Select	NP_710149.1:p.Tyr103His