Canonical Allele Identifier: CA4851606

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 260331
• ClinVar RCV Id: RCV000249619 ; RCV001536551 ; RCV001838586 ; RCV001838587
• dbSNP Id: rs2293889
• ExAC: 8:116599199 T / G
• gnomAD v2: 8-116599199-T-G
• gnomAD v3: 8-115586972-T-G
• gnomAD v4: 8-115586972-T-G
• MyVariant Identifiers: chr8:g.116599199T>G (hg19) ; chr8:g.115586972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115586972T>G , CM000670.2:g.115586972T>G	GRCh38
NC_000008.10:g.116599199T>G , CM000670.1:g.116599199T>G	GRCh37
NC_000008.9:g.116668374T>G	NCBI36
NG_012383.3:g.87030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2700+29A>C MANE Select	ENSP00000379065.3:n.2700+29A>C
ENST00000640765.1:c.2661+29A>C	ENSP00000492037.1:n.2661+29A>C
ENST00000220888.9:c.2661+29A>C	ENSP00000220888.5:n.2661+29A>C
ENST00000395715.7:c.2700+29A>C	ENSP00000379065.3:n.2700+29A>C
ENST00000519076.5:c.1923+29A>C	ENSP00000428910.1:n.1923+29A>C
ENST00000519674.1:c.2661+29A>C	ENSP00000429174.1:n.2661+29A>C
ENST00000520276.5:c.2673+29A>C	ENSP00000428680.1:n.2673+29A>C
NM_001282902.2:c.2673+29A>C	NP_001269831.1:n.2673+29A>C
NM_001282903.2:c.2679+29A>C	NP_001269832.1:n.2679+29A>C
NM_014112.4:c.2700+29A>C	NP_054831.2:n.2700+29A>C
XM_005251049.2:c.2661+29A>C	XP_005251106.1:n.2661+29A>C
XM_006716625.1:c.2700+29A>C	XP_006716688.1:n.2700+29A>C
XM_011517264.1:c.2700+29A>C	XP_011515566.1:n.2700+29A>C
XM_011517265.1:c.2700+29A>C	XP_011515567.1:n.2700+29A>C
XM_011517266.1:c.2700+29A>C	XP_011515568.1:n.2700+29A>C
XM_011517267.1:c.2679+29A>C	XP_011515569.1:n.2679+29A>C
XM_011517268.1:c.2661+29A>C	XP_011515570.1:n.2661+29A>C
NM_001330599.1:c.2661+29A>C	NP_001317528.1:n.2661+29A>C
XM_011517264.2:c.2700+29A>C	XP_011515566.1:n.2700+29A>C
XM_011517266.3:c.2700+29A>C	XP_011515568.1:n.2700+29A>C
XM_011517268.2:c.2661+29A>C	XP_011515570.1:n.2661+29A>C
NM_001282902.3:c.2673+29A>C	NP_001269831.1:n.2673+29A>C
NM_001282903.3:c.2679+29A>C	NP_001269832.1:n.2679+29A>C
NM_001330599.2:c.2661+29A>C	NP_001317528.1:n.2661+29A>C
NM_014112.5:c.2700+29A>C MANE Select	NP_054831.2:n.2700+29A>C