Canonical Allele Identifier: CA390996079

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349645A>T (hg19) ; chr14:g.100883308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883308A>T , CM000676.2:g.100883308A>T	GRCh38
NC_000014.8:g.101349645A>T , CM000676.1:g.101349645A>T	GRCh37
NC_000014.7:g.100419398A>T	NCBI36
NG_045001.1:g.6540T>A
NG_045000.5:g.52040A>T
NG_045000.6:g.52040A>T
NG_045001.2:g.25415T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1481T>A MANE Select	ENSP00000497482.1:p.Ile494Asn
ENST00000534062.1:c.1481T>A	ENSP00000435342.1:p.Ile494Asn
NM_001134888.2:c.1481T>A	NP_001128360.1:p.Ile494Asn
NM_001134888.3:c.1481T>A MANE Select	NP_001128360.1:p.Ile494Asn