Canonical Allele Identifier: CA263693988

Gene: TTLL5

Linked Data

• dbSNP Id: rs372237624
• gnomAD v2: 14-76231007-A-G
• gnomAD v4: 14-75764664-A-G
• MyVariant Identifiers: chr14:g.76231007A>G (hg19) ; chr14:g.75764664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75764664A>G , CM000676.2:g.75764664A>G	GRCh38
NC_000014.8:g.76231007A>G , CM000676.1:g.76231007A>G	GRCh37
NC_000014.7:g.75300760A>G	NCBI36
NG_016974.1:g.108457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298832.14:c.1600A>G MANE Select	ENSP00000298832.9:p.Lys534Glu
ENST00000298832.13:c.1600A>G	ENSP00000298832.9:p.Lys534Glu
ENST00000554510.5:c.127A>G	ENSP00000451946.1:p.Lys43Glu
ENST00000555422.5:n.906A>G
ENST00000556893.5:c.253A>G	ENSP00000452524.1:p.Lys85Glu
ENST00000556976.1:n.334A>G
ENST00000557636.5:c.1642A>G	ENSP00000450713.1:p.Lys548Glu
NM_015072.4:c.1600A>G	NP_055887.3:p.Lys534Glu
NM_015072.5:c.1600A>G MANE Select	NP_055887.3:p.Lys534Glu