Canonical Allele Identifier: CA345233043

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401054A>C (hg19) ; chr1:g.231265308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265308A>C , CM000663.2:g.231265308A>C	GRCh38
NC_000001.10:g.231401054A>C , CM000663.1:g.231401054A>C	GRCh37
NC_000001.9:g.229467677A>C	NCBI36
NG_008240.1:g.29136A>C
NG_008240.2:g.29136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.584A>C MANE Select	ENSP00000355607.4:p.Lys195Thr
ENST00000644483.1:c.*270A>C	ENSP00000496537.1:n.*270A>C
ENST00000366647.8:c.584A>C	ENSP00000355607.4:p.Lys195Thr
ENST00000416000.1:c.554A>C	ENSP00000411640.1:p.Lys185Thr
ENST00000436239.5:c.401A>C	ENSP00000402811.1:p.Lys134Thr
NM_001316350.1:c.401A>C	NP_001303279.1:p.Lys134Thr
NM_014236.3:c.584A>C	NP_055051.1:p.Lys195Thr
XM_005273313.3:c.581A>C	XP_005273370.1:p.Lys194Thr
XM_011544303.1:c.257A>C	XP_011542605.1:p.Lys86Thr
XM_011544304.1:c.257A>C	XP_011542606.1:p.Lys86Thr
XM_005273313.4:c.581A>C	XP_005273370.1:p.Lys194Thr
XM_011544303.3:c.257A>C	XP_011542605.1:p.Lys86Thr
XM_011544304.2:c.257A>C	XP_011542606.1:p.Lys86Thr
NM_014236.4:c.584A>C MANE Select	NP_055051.1:p.Lys195Thr
NM_001316350.2:c.401A>C	NP_001303279.1:p.Lys134Thr