Canonical Allele Identifier: CA10632371

Gene: TYRP1

Linked Data

• ClinVar Variation Id: 364847
• ClinVar RCV Id: RCV000351533 ; RCV002504194
• dbSNP Id: rs766836831
• gnomAD v3: 9-12693927-C-T
• gnomAD v4: 9-12693927-C-T
• MyVariant Identifiers: chr9:g.12693927C>T (hg19) ; chr9:g.12693927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12693927C>T , CM000671.2:g.12693927C>T	GRCh38
NC_000009.11:g.12693927C>T , CM000671.1:g.12693927C>T	GRCh37
NC_000009.10:g.12683927C>T	NCBI36
NG_011705.1:g.5542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.-70C>T MANE Select	ENSP00000373570.4:n.-70C>T
ENST00000388918.9:c.-70C>T	ENSP00000373570.4:n.-70C>T
ENST00000459790.1:n.186C>T
ENST00000473763.1:c.-70C>T	ENSP00000419006.1:n.-70C>T
NM_000550.2:c.-70C>T	NP_000541.1:n.-70C>T
XR_001746372.2:n.120C>T
NM_000550.3:c.-70C>T MANE Select	NP_000541.1:n.-70C>T