Canonical Allele Identifier: CA1812945251

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115587010G= , CM000670.2:g.115587010G=	GRCh38
NC_000008.10:g.116599237G= , CM000670.1:g.116599237G=	GRCh37
NC_000008.9:g.116668412G=	NCBI36
NG_012383.3:g.86992C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2691C= MANE Select	ENSP00000379065.3:p.Ser897=
ENST00000640765.1:c.2652C=	ENSP00000492037.1:p.Ser884=
ENST00000220888.9:c.2652C=	ENSP00000220888.5:p.Ser884=
ENST00000395715.7:c.2691C=	ENSP00000379065.3:p.Ser897=
ENST00000517323.2:c.2064C=	ENSP00000430803.2:p.Ser688=
ENST00000519076.5:c.1914C=	ENSP00000428910.1:p.Ser638=
ENST00000519674.1:c.2652C=	ENSP00000429174.1:p.Ser884=
ENST00000520276.5:c.2664C=	ENSP00000428680.1:p.Ser888=
NM_001282902.2:c.2664C=	NP_001269831.1:p.Ser888=
NM_001282903.2:c.2670C=	NP_001269832.1:p.Ser890=
NM_014112.4:c.2691C=	NP_054831.2:p.Ser897=
XM_005251049.2:c.2652C=	XP_005251106.1:p.Ser884=
XM_006716625.1:c.2691C=	XP_006716688.1:p.Ser897=
XM_011517264.1:c.2691C=	XP_011515566.1:p.Ser897=
XM_011517265.1:c.2691C=	XP_011515567.1:p.Ser897=
XM_011517266.1:c.2691C=	XP_011515568.1:p.Ser897=
XM_011517267.1:c.2670C=	XP_011515569.1:p.Ser890=
XM_011517268.1:c.2652C=	XP_011515570.1:p.Ser884=
NM_001330599.1:c.2652C=	NP_001317528.1:p.Ser884=
XM_011517264.2:c.2691C=	XP_011515566.1:p.Ser897=
XM_011517266.3:c.2691C=	XP_011515568.1:p.Ser897=
XM_011517268.2:c.2652C=	XP_011515570.1:p.Ser884=
NM_001282902.3:c.2664C=	NP_001269831.1:p.Ser888=
NM_001282903.3:c.2670C=	NP_001269832.1:p.Ser890=
NM_001330599.2:c.2652C=	NP_001317528.1:p.Ser884=
NM_014112.5:c.2691C= MANE Select	NP_054831.2:p.Ser897=