Canonical Allele Identifier: CA390995921

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349570A>G (hg19) ; chr14:g.100883233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883233A>G , CM000676.2:g.100883233A>G	GRCh38
NC_000014.8:g.101349570A>G , CM000676.1:g.101349570A>G	GRCh37
NC_000014.7:g.100419323A>G	NCBI36
NG_045001.1:g.6615T>C
NG_045000.5:g.51965A>G
NG_045000.6:g.51965A>G
NG_045001.2:g.25490T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1556T>C MANE Select	ENSP00000497482.1:p.Ile519Thr
ENST00000534062.1:c.1556T>C	ENSP00000435342.1:p.Ile519Thr
NM_001134888.2:c.1556T>C	NP_001128360.1:p.Ile519Thr
NM_001134888.3:c.1556T>C MANE Select	NP_001128360.1:p.Ile519Thr