Canonical Allele Identifier: CA390996555

Gene: RTL1

Linked Data

• dbSNP Id: rs1017661200
• MyVariant Identifiers: chr14:g.101349856C>G (hg19) ; chr14:g.100883519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883519C>G , CM000676.2:g.100883519C>G	GRCh38
NC_000014.8:g.101349856C>G , CM000676.1:g.101349856C>G	GRCh37
NC_000014.7:g.100419609C>G	NCBI36
NG_045001.1:g.6329G>C
NG_045000.5:g.52251C>G
NG_045000.6:g.52251C>G
NG_045001.2:g.25204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1270G>C MANE Select	ENSP00000497482.1:p.Ala424Pro
ENST00000534062.1:c.1270G>C	ENSP00000435342.1:p.Ala424Pro
NM_001134888.2:c.1270G>C	NP_001128360.1:p.Ala424Pro
NM_001134888.3:c.1270G>C MANE Select	NP_001128360.1:p.Ala424Pro