Canonical Allele Identifier: CA1812853879

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414467T= , CM000670.2:g.115414467T=	GRCh38
NC_000008.10:g.116426695T= , CM000670.1:g.116426695T=	GRCh37
NC_000008.9:g.116495871T=	NCBI36
NG_012383.3:g.259535A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3441A= MANE Select	ENSP00000379065.3:p.Leu1147=
ENST00000640765.1:c.3402A=	ENSP00000492037.1:p.Leu1134=
ENST00000220888.9:c.3402A=	ENSP00000220888.5:p.Leu1134=
ENST00000395715.7:c.3441A=	ENSP00000379065.3:p.Leu1147=
ENST00000518018.1:c.775A=
ENST00000519076.5:c.2664A=	ENSP00000428910.1:p.Leu888=
ENST00000520276.5:c.3414A=	ENSP00000428680.1:p.Leu1138=
NM_001282902.2:c.3414A=	NP_001269831.1:p.Leu1138=
NM_001282903.2:c.3420A=	NP_001269832.1:p.Leu1140=
NM_014112.4:c.3441A=	NP_054831.2:p.Leu1147=
XM_005251049.2:c.3402A=	XP_005251106.1:p.Leu1134=
XM_006716625.1:c.3441A=	XP_006716688.1:p.Leu1147=
XM_011517264.1:c.3441A=	XP_011515566.1:p.Leu1147=
XM_011517265.1:c.3441A=	XP_011515567.1:p.Leu1147=
XM_011517266.1:c.3441A=	XP_011515568.1:p.Leu1147=
XM_011517267.1:c.3420A=	XP_011515569.1:p.Leu1140=
XM_011517268.1:c.3402A=	XP_011515570.1:p.Leu1134=
NM_001330599.1:c.3402A=	NP_001317528.1:p.Leu1134=
XM_011517264.2:c.3441A=	XP_011515566.1:p.Leu1147=
XM_011517266.3:c.3441A=	XP_011515568.1:p.Leu1147=
XM_011517268.2:c.3402A=	XP_011515570.1:p.Leu1134=
NM_001282902.3:c.3414A=	NP_001269831.1:p.Leu1138=
NM_001282903.3:c.3420A=	NP_001269832.1:p.Leu1140=
NM_001330599.2:c.3402A=	NP_001317528.1:p.Leu1134=
NM_014112.5:c.3441A= MANE Select	NP_054831.2:p.Leu1147=