Canonical Allele Identifier: CA9105075

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 540516
• ClinVar RCV Id: RCV000650568
• dbSNP Id: rs199784356
• ExAC: 19:4816627 T / G
• gnomAD v2: 19-4816627-T-G
• gnomAD v3: 19-4816615-T-G
• gnomAD v4: 19-4816615-T-G
• MyVariant Identifiers: chr19:g.4816627T>G (hg19) ; chr19:g.4816615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816615T>G , CM000681.2:g.4816615T>G	GRCh38
NC_000019.9:g.4816627T>G , CM000681.1:g.4816627T>G	GRCh37
NC_000019.8:g.4767627T>G	NCBI36
NG_031998.1:g.20128A>C , LRG_358:g.20128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248244.6:c.1763A>C MANE Select	ENSP00000248244.4:p.Gln588Pro
ENST00000248244.5:c.1763A>C	ENSP00000248244.4:p.Gln588Pro
ENST00000621756.1:c.1346A>C	ENSP00000479467.1:p.Gln449Pro
NM_182919.3:c.1763A>C , LRG_358t1:c.1763A>C	NP_891549.1:p.Gln588Pro
NM_001385678.1:c.1721A>C	NP_001372607.1:p.Gln574Pro
NM_001385679.1:c.1628A>C	NP_001372608.1:p.Gln543Pro
NM_001385680.1:c.1121A>C	NP_001372609.1:p.Gln374Pro
NM_182919.4:c.1763A>C MANE Select	NP_891549.1:p.Gln588Pro