Canonical Allele Identifier: CA381093019

Gene: TRPT1

Linked Data

• dbSNP Id: rs1059440
• gnomAD v4: 11-64224329-T-A
• MyVariant Identifiers: chr11:g.63991801T>A (hg19) ; chr11:g.64224329T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64224329T>A , CM000673.2:g.64224329T>A	GRCh38
NC_000011.9:g.63991801T>A , CM000673.1:g.63991801T>A	GRCh37
NC_000011.8:g.63748377T>A	NCBI36
NG_016360.1:g.22650T>A , LRG_180:g.22650T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317459.11:c.515A>T MANE Select	ENSP00000314073.6:p.His172Leu
ENST00000317459.10:c.515A>T	ENSP00000314073.6:p.His172Leu
ENST00000394546.6:c.521A>T	ENSP00000378050.2:p.His174Leu
ENST00000394547.7:c.368A>T	ENSP00000378051.3:p.His123Leu
ENST00000536158.5:n.251A>T
ENST00000536234.1:n.1296A>T
ENST00000537907.1:n.360A>T
ENST00000539436.5:n.1433A>T
ENST00000539595.5:n.1542A>T
ENST00000541278.5:c.515A>T	ENSP00000438683.1:p.His172Leu
ENST00000541928.1:n.140A>T
ENST00000544286.5:c.105A>T
ENST00000545812.1:c.521A>T	ENSP00000442066.1:p.His174Leu
ENST00000546089.5:c.368A>T	ENSP00000437741.1:p.His123Leu
ENST00000546133.5:c.137A>T	ENSP00000439586.1:p.His46Leu
NM_001033678.3:c.515A>T	NP_001028850.2:p.His172Leu
NM_001160389.1:c.521A>T	NP_001153861.1:p.His174Leu
NM_001160390.1:c.515A>T	NP_001153862.1:p.His172Leu
NM_001160392.1:c.515A>T	NP_001153864.1:p.His172Leu
NM_001160393.1:c.515A>T	NP_001153865.1:p.His172Leu
NM_031472.3:c.368A>T	NP_113660.1:p.His123Leu
XM_005274345.3:c.515A>T	XP_005274402.1:p.His172Leu
XM_005274346.3:c.515A>T	XP_005274403.1:p.His172Leu
XM_005274347.3:c.368A>T	XP_005274404.1:p.His123Leu
XM_006718706.2:c.515A>T	XP_006718769.1:p.His172Leu
XM_006718707.2:c.515A>T	XP_006718770.1:p.His172Leu
NM_001330298.1:c.368A>T	NP_001317227.1:p.His123Leu
XM_005274345.4:c.515A>T	XP_005274402.1:p.His172Leu
XM_005274346.4:c.515A>T	XP_005274403.1:p.His172Leu
XM_005274347.4:c.368A>T	XP_005274404.1:p.His123Leu
XM_006718706.3:c.515A>T	XP_006718769.1:p.His172Leu
XM_006718707.3:c.515A>T	XP_006718770.1:p.His172Leu
XM_017018400.1:c.368A>T	XP_016873889.1:p.His123Leu
XM_024448708.1:c.515A>T	XP_024304476.1:p.His172Leu
XM_024448709.1:c.515A>T	XP_024304477.1:p.His172Leu
NM_001033678.4:c.515A>T MANE Select	NP_001028850.2:p.His172Leu
NM_001160390.2:c.515A>T	NP_001153862.1:p.His172Leu
NM_001330298.2:c.368A>T	NP_001317227.1:p.His123Leu
NM_031472.4:c.368A>T	NP_113660.1:p.His123Leu
NM_001160389.2:c.521A>T	NP_001153861.1:p.His174Leu
NM_001160392.2:c.515A>T	NP_001153864.1:p.His172Leu