Canonical Allele Identifier: CA1121431729

Gene: TYRP1 LURAP1L-AS1

Linked Data

• ClinVar Variation Id: 1517641
• ClinVar RCV Id: RCV002041140
• dbSNP Id: rs1818290700
• gnomAD v3: 9-12708123-CTT-C
• gnomAD v4: 9-12708123-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12708124_12708125del , CM000671.2:g.12708124_12708125del	GRCh38
NC_000009.11:g.12708124_12708125del , CM000671.1:g.12708124_12708125del	GRCh37
NC_000009.10:g.12698124_12698125del	NCBI36
NG_011705.1:g.19739_19740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.1389_1390del (TYRP1) MANE Select	ENSP00000373570.4:p.Tyr464Ter
ENST00000381136.2:c.519_520del (TYRP1)	ENSP00000370528.2:p.Tyr174Ter
ENST00000381142.3:n.499-853_499-852del (TYRP1)
ENST00000388918.9:c.1389_1390del (TYRP1)	ENSP00000373570.4:p.Tyr464Ter
ENST00000473504.1:n.454_455del (TYRP1)
NM_000550.2:c.1389_1390del (TYRP1)	NP_000541.1:p.Tyr464Ter
NR_125775.1:n.317-7499_317-7498del (LURAP1L-AS1)
XR_001746372.2:n.1373_1374del (TYRP1)
NM_000550.3:c.1389_1390del (TYRP1) MANE Select	NP_000541.1:p.Tyr464Ter