Canonical Allele Identifier: CA390995959

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349586G>C (hg19) ; chr14:g.100883249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883249G>C , CM000676.2:g.100883249G>C	GRCh38
NC_000014.8:g.101349586G>C , CM000676.1:g.101349586G>C	GRCh37
NC_000014.7:g.100419339G>C	NCBI36
NG_045001.1:g.6599C>G
NG_045000.5:g.51981G>C
NG_045000.6:g.51981G>C
NG_045001.2:g.25474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1540C>G MANE Select	ENSP00000497482.1:p.Pro514Ala
ENST00000534062.1:c.1540C>G	ENSP00000435342.1:p.Pro514Ala
NM_001134888.2:c.1540C>G	NP_001128360.1:p.Pro514Ala
NM_001134888.3:c.1540C>G MANE Select	NP_001128360.1:p.Pro514Ala