Canonical Allele Identifier: CA488181844

Linked Data

MyVariant Identifiers: chr14:g.101349395G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883058G>A , CM000676.2:g.100883058G>A GRCh38
NC_000014.8:g.101349395G>A , CM000676.1:g.101349395G>A GRCh37
NC_000014.7:g.100419148G>A NCBI36
NG_045001.1:g.6790C>T
NG_045000.5:g.51790G>A
NG_045000.6:g.51790G>A
NG_045001.2:g.25665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1731C>T (RTL1) MANE Select ENSP00000497482.1:p.Asp577=
ENST00000534062.1:c.1731C>T (RTL1) ENSP00000435342.1:p.Asp577=
NM_001134888.2:c.1731C>T (RTL1) NP_001128360.1:p.Asp577=
NR_029696.1:n.80G>A (MIR127)
NM_001134888.3:c.1731C>T (RTL1) MANE Select NP_001128360.1:p.Asp577=