Canonical Allele Identifier: CA390996589

Gene: RTL1

Linked Data

• COSMIC: COSM5544193
• MyVariant Identifiers: chr14:g.101349871G>A (hg19) ; chr14:g.100883534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883534G>A , CM000676.2:g.100883534G>A	GRCh38
NC_000014.8:g.101349871G>A , CM000676.1:g.101349871G>A	GRCh37
NC_000014.7:g.100419624G>A	NCBI36
NG_045001.1:g.6314C>T
NG_045000.5:g.52266G>A
NG_045000.6:g.52266G>A
NG_045001.2:g.25189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1255C>T MANE Select	ENSP00000497482.1:p.Pro419Ser
ENST00000534062.1:c.1255C>T	ENSP00000435342.1:p.Pro419Ser
NM_001134888.2:c.1255C>T	NP_001128360.1:p.Pro419Ser
NM_001134888.3:c.1255C>T MANE Select	NP_001128360.1:p.Pro419Ser