Canonical Allele Identifier: CA403488370

Gene: TICAM1

Linked Data

• dbSNP Id: rs2093584967
• gnomAD v4: 19-4816366-G-A
• MyVariant Identifiers: chr19:g.4816378G>A (hg19) ; chr19:g.4816366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816366G>A , CM000681.2:g.4816366G>A	GRCh38
NC_000019.9:g.4816378G>A , CM000681.1:g.4816378G>A	GRCh37
NC_000019.8:g.4767378G>A	NCBI36
NG_031998.1:g.20377C>T , LRG_358:g.20377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2012C>T MANE Select	ENSP00000248244.4:p.Pro671Leu
ENST00000248244.5:c.2012C>T	ENSP00000248244.4:p.Pro671Leu
ENST00000621756.1:c.1514C>T	ENSP00000479467.1:p.Pro505Leu
NM_182919.3:c.2012C>T , LRG_358t1:c.2012C>T	NP_891549.1:p.Pro671Leu
NM_001385678.1:c.1970C>T	NP_001372607.1:p.Pro657Leu
NM_001385679.1:c.1877C>T	NP_001372608.1:p.Pro626Leu
NM_001385680.1:c.1370C>T	NP_001372609.1:p.Pro457Leu
NM_182919.4:c.2012C>T MANE Select	NP_891549.1:p.Pro671Leu