Canonical Allele Identifier: CA189306171

Gene: TYRP1

Linked Data

• ClinVar Variation Id: 1458626
• ClinVar RCV Id: RCV001975027 ; RCV003913470
• dbSNP Id: rs371209698
• gnomAD v2: 9-12695547-G-T
• gnomAD v3: 9-12695547-G-T
• gnomAD v4: 9-12695547-G-T
• MyVariant Identifiers: chr9:g.12695547G>T (hg19) ; chr9:g.12695547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12695547G>T , CM000671.2:g.12695547G>T	GRCh38
NC_000009.11:g.12695547G>T , CM000671.1:g.12695547G>T	GRCh37
NC_000009.10:g.12685547G>T	NCBI36
NG_011705.1:g.7162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.418G>T MANE Select	ENSP00000373570.4:p.Glu140Ter
ENST00000388918.9:c.418G>T	ENSP00000373570.4:p.Glu140Ter
NM_000550.2:c.418G>T	NP_000541.1:p.Glu140Ter
XR_001746372.2:n.607G>T
NM_000550.3:c.418G>T MANE Select	NP_000541.1:p.Glu140Ter