Canonical Allele Identifier: CA488181907

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349638A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883301A>G , CM000676.2:g.100883301A>G	GRCh38
NC_000014.8:g.101349638A>G , CM000676.1:g.101349638A>G	GRCh37
NC_000014.7:g.100419391A>G	NCBI36
NG_045001.1:g.6547T>C
NG_045000.5:g.52033A>G
NG_045000.6:g.52033A>G
NG_045001.2:g.25422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1488T>C MANE Select	ENSP00000497482.1:p.Pro496=
ENST00000534062.1:c.1488T>C	ENSP00000435342.1:p.Pro496=
NM_001134888.2:c.1488T>C	NP_001128360.1:p.Pro496=
NM_001134888.3:c.1488T>C MANE Select	NP_001128360.1:p.Pro496=