Canonical Allele Identifier: CA199693
Gene: PIGC HGNC NCBI
C1orf105 HGNC NCBI

Linked Data

ClinVar Variation Id: 190451
dbSNP Id: rs786205667

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.172441964A>G , CM000663.2:g.172441964A>G GRCh38
NC_000001.10:g.172411104A>G , CM000663.1:g.172411104A>G GRCh37
NC_000001.9:g.170677727A>G NCBI36
NG_050631.1:g.7127T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344529.5:c.659T>C (PIGC) MANE Select ENSP00000356701.3:p.Leu220Pro
ENST00000367727.9:c.22-3109A>G (C1orf105) MANE Select ENSP00000356700.4:n.22-3109A>G
ENST00000344529.4:c.659T>C (PIGC) ENSP00000356701.3:p.Leu220Pro
ENST00000367727.8:c.22-3109A>G (C1orf105) ENSP00000356700.4:n.22-3109A>G
ENST00000367728.1:c.659T>C (PIGC) ENSP00000356702.1:p.Leu220Pro
ENST00000484368.1:n.96+2024T>C (PIGC)
NM_002642.3:c.659T>C (PIGC) NP_002633.1:p.Leu220Pro
NM_139240.3:c.22-3109A>G (C1orf105) NP_640333.3:n.22-3109A>G
NM_153747.1:c.659T>C (PIGC) NP_714969.1:p.Leu220Pro
XM_011510152.1:c.103-3109A>G (C1orf105) XP_011508454.1:n.103-3109A>G
XM_011510153.1:c.10-3109A>G (C1orf105) XP_011508455.1:n.10-3109A>G
XM_011510154.1:c.-46-6477A>G (C1orf105) XP_011508456.1:n.-46-6477A>G
XM_011510155.1:c.103-3109A>G (C1orf105) XP_011508457.1:n.103-3109A>G
XM_011510156.1:c.22-14451A>G (C1orf105) XP_011508458.1:n.22-14451A>G
XR_922283.1:n.83+14425T>C
XR_922285.1:n.65+14425T>C
XM_011510152.2:c.103-3109A>G (C1orf105) XP_011508454.1:n.103-3109A>G
XM_011510153.2:c.10-3109A>G (C1orf105) XP_011508455.1:n.10-3109A>G
XM_011510154.2:c.-46-6477A>G (C1orf105) XP_011508456.1:n.-46-6477A>G
XM_011510155.2:c.103-3109A>G (C1orf105) XP_011508457.1:n.103-3109A>G
XM_011510156.2:c.22-14451A>G (C1orf105) XP_011508458.1:n.22-14451A>G
XR_922283.3:n.82+14425T>C
NM_139240.4:c.22-3109A>G (C1orf105) MANE Select NP_640333.3:n.22-3109A>G
NM_153747.2:c.659T>C (PIGC) MANE Select NP_714969.1:p.Leu220Pro
NM_002642.4:c.659T>C (PIGC) NP_002633.1:p.Leu220Pro