Canonical Allele Identifier: CA505174434

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 1100125
• ClinVar RCV Id: RCV001422641
• dbSNP Id: rs2146167795
• MyVariant Identifiers: chr19:g.4816683G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816671G>A , CM000681.2:g.4816671G>A	GRCh38
NC_000019.9:g.4816683G>A , CM000681.1:g.4816683G>A	GRCh37
NC_000019.8:g.4767683G>A	NCBI36
NG_031998.1:g.20072C>T , LRG_358:g.20072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1707C>T MANE Select	ENSP00000248244.4:p.Ala569=
ENST00000248244.5:c.1707C>T	ENSP00000248244.4:p.Ala569=
ENST00000621756.1:c.1290C>T	ENSP00000479467.1:p.Ala430=
NM_182919.3:c.1707C>T , LRG_358t1:c.1707C>T	NP_891549.1:p.Ala569=
NM_001385678.1:c.1665C>T	NP_001372607.1:p.Ala555=
NM_001385679.1:c.1572C>T	NP_001372608.1:p.Ala524=
NM_001385680.1:c.1065C>T	NP_001372609.1:p.Ala355=
NM_182919.4:c.1707C>T MANE Select	NP_891549.1:p.Ala569=