Canonical Allele Identifier: CA370299702
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480117T>G (hg19) chr8:g.10622607T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622607T>G , CM000670.2:g.10622607T>G GRCh38
NC_000008.10:g.10480117T>G , CM000670.1:g.10480117T>G GRCh37
NC_000008.9:g.10517527T>G NCBI36
NG_028035.1:g.37501A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.595A>C MANE Select ENSP00000371923.3:p.Thr199Pro
ENST00000329335.3:n.845A>C
ENST00000382483.3:c.595A>C ENSP00000371923.3:p.Thr199Pro
NM_178857.5:c.595A>C NP_849188.4:p.Thr199Pro
NM_178857.6:c.595A>C MANE Select NP_849188.4:p.Thr199Pro
Search 100 bp 5'
Search 100 bp 3'