Canonical Allele Identifier: CA488181833

Gene: RTL1

Linked Data

• gnomAD v4: 14-100883505-C-G
• MyVariant Identifiers: chr14:g.101349842C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883505C>G , CM000676.2:g.100883505C>G	GRCh38
NC_000014.8:g.101349842C>G , CM000676.1:g.101349842C>G	GRCh37
NC_000014.7:g.100419595C>G	NCBI36
NG_045001.1:g.6343G>C
NG_045000.5:g.52237C>G
NG_045000.6:g.52237C>G
NG_045001.2:g.25218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1284G>C MANE Select	ENSP00000497482.1:p.Leu428=
ENST00000534062.1:c.1284G>C	ENSP00000435342.1:p.Leu428=
NM_001134888.2:c.1284G>C	NP_001128360.1:p.Leu428=
NM_001134888.3:c.1284G>C MANE Select	NP_001128360.1:p.Leu428=