Canonical Allele Identifier: CA390466264

Gene: TTLL5

Linked Data

• dbSNP Id: rs1340743939
• gnomAD v2: 14-76230980-G-A
• gnomAD v4: 14-75764637-G-A
• MyVariant Identifiers: chr14:g.76230980G>A (hg19) ; chr14:g.75764637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75764637G>A , CM000676.2:g.75764637G>A	GRCh38
NC_000014.8:g.76230980G>A , CM000676.1:g.76230980G>A	GRCh37
NC_000014.7:g.75300733G>A	NCBI36
NG_016974.1:g.108430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298832.14:c.1573G>A MANE Select	ENSP00000298832.9:p.Glu525Lys
ENST00000298832.13:c.1573G>A	ENSP00000298832.9:p.Glu525Lys
ENST00000554510.5:c.100G>A	ENSP00000451946.1:p.Glu34Lys
ENST00000555422.5:n.879G>A
ENST00000556893.5:c.226G>A	ENSP00000452524.1:p.Glu76Lys
ENST00000556976.1:n.307G>A
ENST00000557636.5:c.1615G>A	ENSP00000450713.1:p.Glu539Lys
NM_015072.4:c.1573G>A	NP_055887.3:p.Glu525Lys
NM_015072.5:c.1573G>A MANE Select	NP_055887.3:p.Glu525Lys