Canonical Allele Identifier: CA390811107

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93685006G>C (hg19) ; chr14:g.93218660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218660G>C , CM000676.2:g.93218660G>C	GRCh38
NC_000014.8:g.93685006G>C , CM000676.1:g.93685006G>C	GRCh37
NC_000014.7:g.92754759G>C	NCBI36
NG_051089.1:g.16605G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.735G>C MANE Select	ENSP00000013070.6:p.Lys245Asn
ENST00000013070.10:c.735G>C	ENSP00000013070.6:p.Lys245Asn
ENST00000416753.5:c.507G>C	ENSP00000391706.2:p.Lys169Asn
ENST00000553674.1:c.*436G>C	ENSP00000450470.1:n.*436G>C
ENST00000553857.5:c.378+3379G>C
ENST00000556871.5:c.444G>C	ENSP00000451022.1:p.Lys148Asn
NM_175748.3:c.735G>C	NP_786924.2:p.Lys245Asn
NR_038150.1:n.837G>C
NM_175748.4:c.735G>C MANE Select	NP_786924.2:p.Lys245Asn
NR_038150.2:n.637G>C