Canonical Allele Identifier: CA390466212

Gene: TTLL5

Linked Data

• ClinVar Variation Id: 1067519
• ClinVar RCV Id: RCV001378812
• dbSNP Id: rs1359166382
• gnomAD v2: 14-76230956-A-G
• gnomAD v4: 14-75764613-A-G
• MyVariant Identifiers: chr14:g.76230956A>G (hg19) ; chr14:g.75764613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75764613A>G , CM000676.2:g.75764613A>G	GRCh38
NC_000014.8:g.76230956A>G , CM000676.1:g.76230956A>G	GRCh37
NC_000014.7:g.75300709A>G	NCBI36
NG_016974.1:g.108406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298832.14:c.1551-2A>G MANE Select	ENSP00000298832.9:n.1551-2A>G
ENST00000298832.13:c.1551-2A>G	ENSP00000298832.9:n.1551-2A>G
ENST00000554510.5:c.78-2A>G	ENSP00000451946.1:n.78-2A>G
ENST00000555422.5:n.857-2A>G
ENST00000556893.5:c.204-2A>G	ENSP00000452524.1:n.204-2A>G
ENST00000556976.1:n.285-2A>G
ENST00000557636.5:c.1593-2A>G	ENSP00000450713.1:n.1593-2A>G
NM_015072.4:c.1551-2A>G	NP_055887.3:n.1551-2A>G
NM_015072.5:c.1551-2A>G MANE Select	NP_055887.3:n.1551-2A>G