Canonical Allele Identifier: CA9358388

Gene: SLC7A9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32830639G>A , CM000681.2:g.32830639G>A	GRCh38
NC_000019.9:g.33321545G>A , CM000681.1:g.33321545G>A	GRCh37
NC_000019.8:g.38013385G>A	NCBI36
NG_008258.1:g.44139C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014270.5:c.1445C>T MANE Select	NP_055085.1:p.Pro482Leu
ENST00000023064.9:c.1445C>T MANE Select	ENSP00000023064.3:p.Pro482Leu
NM_001126335.1:c.1445C>T	NP_001119807.1:p.Pro482Leu
NM_001126335.2:c.1445C>T	NP_001119807.1:p.Pro482Leu
NM_001243036.1:c.1445C>T	NP_001229965.1:p.Pro482Leu
NM_001243036.2:c.1445C>T	NP_001229965.1:p.Pro482Leu
NM_014270.4:c.1445C>T	NP_055085.1:p.Pro482Leu
ENST00000023064.8:c.1445C>T	ENSP00000023064.3:p.Pro482Leu
ENST00000587772.1:c.1445C>T	ENSP00000468439.1:p.Pro482Leu
ENST00000590341.5:c.1445C>T	ENSP00000464822.1:p.Pro482Leu
ENST00000590465.5:c.*1592C>T	ENSP00000468076.1:n.*1592C>T
ENST00000592232.5:c.*854C>T	ENSP00000465563.1:n.*854C>T
XM_006722992.1:c.764C>T	XP_006723055.1:p.Pro255Leu
XM_011526402.1:c.1445C>T	XP_011524704.1:p.Pro482Leu
XM_011526402.3:c.1445C>T	XP_011524704.1:p.Pro482Leu
XM_017026230.1:c.1181C>T	XP_016881719.1:p.Pro394Leu
XM_024451334.1:c.818C>T	XP_024307102.1:p.Pro273Leu