Canonical Allele Identifier: CA390466363

Gene: TTLL5

Linked Data

• gnomAD v4: 14-75764680-C-T
• MyVariant Identifiers: chr14:g.76231023C>T (hg19) ; chr14:g.75764680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75764680C>T , CM000676.2:g.75764680C>T	GRCh38
NC_000014.8:g.76231023C>T , CM000676.1:g.76231023C>T	GRCh37
NC_000014.7:g.75300776C>T	NCBI36
NG_016974.1:g.108473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298832.14:c.1616C>T MANE Select	ENSP00000298832.9:p.Ala539Val
ENST00000298832.13:c.1616C>T	ENSP00000298832.9:p.Ala539Val
ENST00000554510.5:c.143C>T	ENSP00000451946.1:p.Ala48Val
ENST00000555422.5:n.922C>T
ENST00000556893.5:c.269C>T	ENSP00000452524.1:p.Ala90Val
ENST00000556976.1:n.350C>T
ENST00000557636.5:c.1658C>T	ENSP00000450713.1:p.Ala553Val
NM_015072.4:c.1616C>T	NP_055887.3:p.Ala539Val
NM_015072.5:c.1616C>T MANE Select	NP_055887.3:p.Ala539Val