Canonical Allele Identifier: CA403488614

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816490-G-A
• MyVariant Identifiers: chr19:g.4816502G>A (hg19) ; chr19:g.4816490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816490G>A , CM000681.2:g.4816490G>A	GRCh38
NC_000019.9:g.4816502G>A , CM000681.1:g.4816502G>A	GRCh37
NC_000019.8:g.4767502G>A	NCBI36
NG_031998.1:g.20253C>T , LRG_358:g.20253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1888C>T MANE Select	ENSP00000248244.4:p.Pro630Ser
ENST00000248244.5:c.1888C>T	ENSP00000248244.4:p.Pro630Ser
ENST00000621756.1:c.1471C>T	ENSP00000479467.1:p.Pro491Ser
NM_182919.3:c.1888C>T , LRG_358t1:c.1888C>T	NP_891549.1:p.Pro630Ser
NM_001385678.1:c.1846C>T	NP_001372607.1:p.Pro616Ser
NM_001385679.1:c.1753C>T	NP_001372608.1:p.Pro585Ser
NM_001385680.1:c.1246C>T	NP_001372609.1:p.Pro416Ser
NM_182919.4:c.1888C>T MANE Select	NP_891549.1:p.Pro630Ser