Canonical Allele Identifier: CA371489119

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 1963247
• ClinVar RCV Id: RCV002711024
• MyVariant Identifiers: chr8:g.74888542C>T (hg19) ; chr8:g.73976307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976307C>T , CM000670.2:g.73976307C>T	GRCh38
NC_000008.10:g.74888542C>T , CM000670.1:g.74888542C>T	GRCh37
NC_000008.9:g.75051096C>T	NCBI36
NG_016618.1:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.26C>T MANE Select	ENSP00000312599.5:p.Pro9Leu
ENST00000312184.5:c.26C>T	ENSP00000312599.5:p.Pro9Leu
ENST00000416961.6:c.26C>T	ENSP00000407695.2:p.Pro9Leu
ENST00000517439.1:c.26C>T	ENSP00000429467.1:p.Pro9Leu
ENST00000517614.1:n.89C>T
ENST00000520167.5:n.317+346C>T
ENST00000523794.1:n.577C>T
NM_001040613.2:c.26C>T	NP_001035703.1:p.Pro9Leu
NM_017866.5:c.26C>T	NP_060336.3:p.Pro9Leu
NR_033334.1:n.166C>T
NM_017866.6:c.26C>T MANE Select	NP_060336.3:p.Pro9Leu
NM_001040613.3:c.26C>T	NP_001035703.1:p.Pro9Leu
NR_033334.2:n.113C>T