Canonical Allele Identifier: CA488181839

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349845G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883508G>C , CM000676.2:g.100883508G>C	GRCh38
NC_000014.8:g.101349845G>C , CM000676.1:g.101349845G>C	GRCh37
NC_000014.7:g.100419598G>C	NCBI36
NG_045001.1:g.6340C>G
NG_045000.5:g.52240G>C
NG_045000.6:g.52240G>C
NG_045001.2:g.25215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1281C>G MANE Select	ENSP00000497482.1:p.Ala427=
ENST00000534062.1:c.1281C>G	ENSP00000435342.1:p.Ala427=
NM_001134888.2:c.1281C>G	NP_001128360.1:p.Ala427=
NM_001134888.3:c.1281C>G MANE Select	NP_001128360.1:p.Ala427=