Canonical Allele Identifier: CA174884

Gene: TRIML1

Linked Data

• ClinVar Variation Id: 161839
• ClinVar RCV Id: RCV000149375
• dbSNP Id: rs193920871
• COSMIC: COSM1179915
• MyVariant Identifiers: chr4:g.189068307A>T (hg19) ; chr4:g.188147153A>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.188147153A>T , CM000666.2:g.188147153A>T	GRCh38
NC_000004.11:g.189068307A>T , CM000666.1:g.189068307A>T	GRCh37
NC_000004.10:g.189305301A>T	NCBI36
NG_051631.1:g.13965A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332517.4:c.1188A>T MANE Select	ENSP00000327738.3:p.Lys396Asn
ENST00000332517.3:c.1188A>T	ENSP00000327738.3:p.Lys396Asn
ENST00000507581.5:n.648A>T
ENST00000512233.1:n.538A>T
NM_178556.3:c.1188A>T	NP_848651.2:p.Lys396Asn
XM_006714207.2:c.1044A>T	XP_006714270.1:p.Lys348Asn
XM_011531919.1:c.897A>T	XP_011530221.1:p.Lys299Asn
NM_178556.4:c.1188A>T	NP_848651.2:p.Lys396Asn
XM_006714207.3:c.1044A>T	XP_006714270.1:p.Lys348Asn
XM_011531919.2:c.897A>T	XP_011530221.1:p.Lys299Asn
XM_024454028.1:c.897A>T	XP_024309796.1:p.Lys299Asn
XR_001741216.1:n.1328A>T
NM_178556.5:c.1188A>T MANE Select	NP_848651.2:p.Lys396Asn