Canonical Allele Identifier: CA345233127

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401072T>C (hg19) ; chr1:g.231265326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265326T>C , CM000663.2:g.231265326T>C	GRCh38
NC_000001.10:g.231401072T>C , CM000663.1:g.231401072T>C	GRCh37
NC_000001.9:g.229467695T>C	NCBI36
NG_008240.1:g.29154T>C
NG_008240.2:g.29154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.602T>C MANE Select	ENSP00000355607.4:p.Leu201Pro
ENST00000644483.1:c.*288T>C	ENSP00000496537.1:n.*288T>C
ENST00000366647.8:c.602T>C	ENSP00000355607.4:p.Leu201Pro
ENST00000416000.1:c.572T>C	ENSP00000411640.1:p.Leu191Pro
ENST00000436239.5:c.419T>C	ENSP00000402811.1:p.Leu140Pro
NM_001316350.1:c.419T>C	NP_001303279.1:p.Leu140Pro
NM_014236.3:c.602T>C	NP_055051.1:p.Leu201Pro
XM_005273313.3:c.599T>C	XP_005273370.1:p.Leu200Pro
XM_011544303.1:c.275T>C	XP_011542605.1:p.Leu92Pro
XM_011544304.1:c.275T>C	XP_011542606.1:p.Leu92Pro
XM_005273313.4:c.599T>C	XP_005273370.1:p.Leu200Pro
XM_011544303.3:c.275T>C	XP_011542605.1:p.Leu92Pro
XM_011544304.2:c.275T>C	XP_011542606.1:p.Leu92Pro
NM_014236.4:c.602T>C MANE Select	NP_055051.1:p.Leu201Pro
NM_001316350.2:c.419T>C	NP_001303279.1:p.Leu140Pro