Canonical Allele Identifier: CA488181896

Gene: RTL1

Linked Data

• dbSNP Id: rs2140036782
• MyVariant Identifiers: chr14:g.101349869G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883532G>A , CM000676.2:g.100883532G>A	GRCh38
NC_000014.8:g.101349869G>A , CM000676.1:g.101349869G>A	GRCh37
NC_000014.7:g.100419622G>A	NCBI36
NG_045001.1:g.6316C>T
NG_045000.5:g.52264G>A
NG_045000.6:g.52264G>A
NG_045001.2:g.25191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1257C>T MANE Select	ENSP00000497482.1:p.Pro419=
ENST00000534062.1:c.1257C>T	ENSP00000435342.1:p.Pro419=
NM_001134888.2:c.1257C>T	NP_001128360.1:p.Pro419=
NM_001134888.3:c.1257C>T MANE Select	NP_001128360.1:p.Pro419=