Canonical Allele Identifier: CA404675684

Gene: SLC27A1 PGLS-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17497351G>A , CM000681.2:g.17497351G>A	GRCh38
NC_000019.9:g.17608160G>A , CM000681.1:g.17608160G>A	GRCh37
NC_000019.8:g.17469160G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_198580.3:c.1093G>A (SLC27A1) MANE Select	NP_940982.1:p.Gly365Arg
ENST00000252595.12:c.1093G>A (SLC27A1) MANE Select	ENSP00000252595.6:p.Gly365Arg
NM_198580.2:c.1093G>A (SLC27A1)	NP_940982.1:p.Gly365Arg
NR_147835.1:n.548-6154C>T (PGLS-DT)
ENST00000252595.11:c.1093G>A (SLC27A1)	ENSP00000252595.6:p.Gly365Arg
ENST00000593701.5:n.387G>A (SLC27A1)
ENST00000594962.5:n.1937G>A (SLC27A1)
ENST00000598424.5:c.556G>A (SLC27A1)	ENSP00000472313.1:p.Gly186Arg
ENST00000599380.5:c.*245G>A (SLC27A1)	ENSP00000469459.1:n.*245G>A
XM_011528000.1:c.1129G>A (SLC27A1)	XP_011526302.1:p.Gly377Arg
XM_011528001.1:c.1129G>A (SLC27A1)	XP_011526303.1:p.Gly377Arg
XM_011528001.2:c.1129G>A (SLC27A1)	XP_011526303.1:p.Gly377Arg
XM_011528002.1:c.1129G>A (SLC27A1)	XP_011526304.1:p.Gly377Arg
XM_011528002.2:c.1129G>A (SLC27A1)	XP_011526304.1:p.Gly377Arg
XM_011528003.1:c.1093G>A (SLC27A1)	XP_011526305.1:p.Gly365Arg
XM_011528003.2:c.1093G>A (SLC27A1)	XP_011526305.1:p.Gly365Arg
XM_017026781.1:c.1129G>A (SLC27A1)	XP_016882270.1:p.Gly377Arg
XR_001753680.1:n.1074G>A (SLC27A1)
XR_001753681.1:n.1038G>A (SLC27A1)
XR_936176.1:n.1275G>A (SLC27A1)
XR_936177.1:n.1239G>A (SLC27A1)