Canonical Allele Identifier: CA390996560

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349859C>A (hg19) ; chr14:g.100883522C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883522C>A , CM000676.2:g.100883522C>A	GRCh38
NC_000014.8:g.101349859C>A , CM000676.1:g.101349859C>A	GRCh37
NC_000014.7:g.100419612C>A	NCBI36
NG_045001.1:g.6326G>T
NG_045000.5:g.52254C>A
NG_045000.6:g.52254C>A
NG_045001.2:g.25201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1267G>T MANE Select	ENSP00000497482.1:p.Val423Phe
ENST00000534062.1:c.1267G>T	ENSP00000435342.1:p.Val423Phe
NM_001134888.2:c.1267G>T	NP_001128360.1:p.Val423Phe
NM_001134888.3:c.1267G>T MANE Select	NP_001128360.1:p.Val423Phe