Canonical Allele Identifier: CA345240356

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231411242G>T (hg19) ; chr1:g.231275496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231275496G>T , CM000663.2:g.231275496G>T	GRCh38
NC_000001.10:g.231411242G>T , CM000663.1:g.231411242G>T	GRCh37
NC_000001.9:g.229477865G>T	NCBI36
NG_008240.1:g.39324G>T
NG_008240.2:g.39324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1935G>T MANE Select	ENSP00000355607.4:p.Lys645Asn
ENST00000644483.1:c.*1621G>T	ENSP00000496537.1:n.*1621G>T
ENST00000366647.8:c.1935G>T	ENSP00000355607.4:p.Lys645Asn
ENST00000469332.1:n.517G>T
NM_001316350.1:c.1752G>T	NP_001303279.1:p.Lys584Asn
NM_014236.3:c.1935G>T	NP_055051.1:p.Lys645Asn
XM_005273313.3:c.1932G>T	XP_005273370.1:p.Lys644Asn
XM_011544303.1:c.1608G>T	XP_011542605.1:p.Lys536Asn
XM_011544304.1:c.1608G>T	XP_011542606.1:p.Lys536Asn
XM_005273313.4:c.1932G>T	XP_005273370.1:p.Lys644Asn
XM_011544303.3:c.1608G>T	XP_011542605.1:p.Lys536Asn
XM_011544304.2:c.1608G>T	XP_011542606.1:p.Lys536Asn
NM_014236.4:c.1935G>T MANE Select	NP_055051.1:p.Lys645Asn
NM_001316350.2:c.1752G>T	NP_001303279.1:p.Lys584Asn