Canonical Allele Identifier: CA1452041

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 296131
• ClinVar RCV Id: RCV000280211 ; RCV003718154
• dbSNP Id: rs200561922
• ExAC: 1:231406761 T / C
• gnomAD v2: 1-231406761-T-C
• gnomAD v4: 1-231271015-T-C
• MyVariant Identifiers: chr1:g.231406761T>C (hg19) ; chr1:g.231271015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231271015T>C , CM000663.2:g.231271015T>C	GRCh38
NC_000001.10:g.231406761T>C , CM000663.1:g.231406761T>C	GRCh37
NC_000001.9:g.229473384T>C	NCBI36
NG_008240.1:g.34843T>C
NG_008240.2:g.34843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1522+15T>C MANE Select	ENSP00000355607.4:n.1522+15T>C
ENST00000644483.1:c.*1208+15T>C	ENSP00000496537.1:n.*1208+15T>C
ENST00000366647.8:c.1522+15T>C	ENSP00000355607.4:n.1522+15T>C
ENST00000416000.1:c.1492+15T>C	ENSP00000411640.1:n.1492+15T>C
NM_001316350.1:c.1339+15T>C	NP_001303279.1:n.1339+15T>C
NM_014236.3:c.1522+15T>C	NP_055051.1:n.1522+15T>C
XM_005273313.3:c.1519+15T>C	XP_005273370.1:n.1519+15T>C
XM_011544303.1:c.1195+15T>C	XP_011542605.1:n.1195+15T>C
XM_011544304.1:c.1195+15T>C	XP_011542606.1:n.1195+15T>C
XM_005273313.4:c.1519+15T>C	XP_005273370.1:n.1519+15T>C
XM_011544303.3:c.1195+15T>C	XP_011542605.1:n.1195+15T>C
XM_011544304.2:c.1195+15T>C	XP_011542606.1:n.1195+15T>C
NM_014236.4:c.1522+15T>C MANE Select	NP_055051.1:n.1522+15T>C
NM_001316350.2:c.1339+15T>C	NP_001303279.1:n.1339+15T>C