Canonical Allele Identifier: CA9104999
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs772195426
gnomAD v2: 19-4816314-G-T
gnomAD v3: 19-4816302-G-T
gnomAD v4: 19-4816302-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816302G>T , CM000681.2:g.4816302G>T GRCh38
NC_000019.9:g.4816314G>T , CM000681.1:g.4816314G>T GRCh37
NC_000019.8:g.4767314G>T NCBI36
NG_031998.1:g.20441C>A , LRG_358:g.20441C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.2076C>A MANE Select ENSP00000248244.4:p.Asn692Lys
ENST00000248244.5:c.2076C>A ENSP00000248244.4:p.Asn692Lys
ENST00000621756.1:c.1578C>A ENSP00000479467.1:p.Asn526Lys
NM_182919.3:c.2076C>A , LRG_358t1:c.2076C>A NP_891549.1:p.Asn692Lys
NM_001385678.1:c.2034C>A NP_001372607.1:p.Asn678Lys
NM_001385679.1:c.1941C>A NP_001372608.1:p.Asn647Lys
NM_001385680.1:c.1434C>A NP_001372609.1:p.Asn478Lys
NM_182919.4:c.2076C>A MANE Select NP_891549.1:p.Asn692Lys