Canonical Allele Identifier: CA506999803
Gene: GPI HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.34890887T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399982T>C , CM000681.2:g.34399982T>C GRCh38
NC_000019.9:g.34890887T>C , CM000681.1:g.34890887T>C GRCh37
NC_000019.8:g.39582727T>C NCBI36
NG_012838.2:g.40243T>C
NG_012838.3:g.45391T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356487.11:c.1623T>C MANE Select ENSP00000348877.3:p.Ser541=
ENST00000415930.8:c.1740T>C ENSP00000405573.3:p.Ser580=
ENST00000586425.2:c.1289T>C
ENST00000588991.7:c.1656T>C ENSP00000465858.3:p.Ser552=
ENST00000643067.1:n.2668T>C
ENST00000647446.1:c.*674T>C ENSP00000495129.1:n.*674T>C
ENST00000356487.9:c.1623T>C ENSP00000348877.3:p.Ser541=
ENST00000415930.7:c.1656T>C ENSP00000405573.2:p.Ser552=
ENST00000586077.1:n.2700T>C
ENST00000586392.1:n.1361T>C
ENST00000586425.1:c.*55T>C ENSP00000467670.2:n.*55T>C
ENST00000588991.6:c.1668T>C ENSP00000465858.2:p.Ser556=
ENST00000592740.5:c.193+3325T>C
NM_000175.3:c.1623T>C NP_000166.2:p.Ser541=
NM_001184722.1:c.1656T>C NP_001171651.1:p.Ser552=
NM_001289789.1:c.1740T>C NP_001276718.1:p.Ser580=
NM_001289790.1:c.1539T>C NP_001276719.1:p.Ser513=
XM_005258764.1:c.1623T>C XP_005258821.1:p.Ser541=
XM_006723148.1:c.1623T>C XP_006723211.1:p.Ser541=
XM_011526754.1:c.1740T>C XP_011525056.1:p.Ser580=
NM_000175.5:c.1623T>C MANE Select NP_000166.2:p.Ser541=
NM_001289790.2:c.1539T>C NP_001276719.1:p.Ser513=
NM_001329909.1:c.1623T>C NP_001316838.1:p.Ser541=
NM_001329910.1:c.1623T>C NP_001316839.1:p.Ser541=
NM_001329911.1:c.1596T>C NP_001316840.1:p.Ser532=
XM_011526754.3:c.1740T>C XP_011525056.1:p.Ser580=
NM_001289790.3:c.1539T>C NP_001276719.1:p.Ser513=
NM_001329911.2:c.1596T>C NP_001316840.1:p.Ser532=