Canonical Allele Identifier: CA16577564

Gene: GPCPD1

Linked Data

• dbSNP Id: rs238295
• gnomAD v2: 20-5588449-A-G
• gnomAD v3: 20-5607803-A-G
• gnomAD v4: 20-5607803-A-G
• MyVariant Identifiers: chr20:g.5588449A>G (hg19) ; chr20:g.5607803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5607803A>G , CM000682.2:g.5607803A>G	GRCh38
NC_000020.10:g.5588449A>G , CM000682.1:g.5588449A>G	GRCh37
NC_000020.9:g.5536449A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379019.7:c.-29+3039T>C MANE Select	ENSP00000368305.4:n.-29+3039T>C
ENST00000379019.5:c.-29+3039T>C	ENSP00000368305.4:n.-29+3039T>C
ENST00000481690.2:c.-29+3039T>C	ENSP00000488635.1:n.-29+3039T>C
NM_019593.3:c.-29+3039T>C	NP_062539.1:n.-29+3039T>C
XM_005260758.3:c.-29+1837T>C	XP_005260815.1:n.-29+1837T>C
XM_005260761.1:c.-496+3039T>C	XP_005260818.1:n.-496+3039T>C
XM_006723595.2:c.-29+1837T>C	XP_006723658.1:n.-29+1837T>C
XM_006723596.2:c.-88+1837T>C	XP_006723659.1:n.-88+1837T>C
XM_011529307.1:c.-29+1837T>C	XP_011527609.1:n.-29+1837T>C
XM_005260758.5:c.-29+1837T>C	XP_005260815.1:n.-29+1837T>C
XM_005260761.2:c.-496+3039T>C	XP_005260818.1:n.-496+3039T>C
XM_006723596.4:c.-88+1837T>C	XP_006723659.1:n.-88+1837T>C
XM_024451948.1:c.-350+3039T>C	XP_024307716.1:n.-350+3039T>C
XM_024451949.1:c.-99+3039T>C	XP_024307717.1:n.-99+3039T>C
XR_001754345.2:n.1056+1837T>C
NM_019593.5:c.-29+3039T>C MANE Select	NP_062539.1:n.-29+3039T>C