Canonical Allele Identifier: CA370299939
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480198G>C (hg19) chr8:g.10622688G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622688G>C , CM000670.2:g.10622688G>C GRCh38
NC_000008.10:g.10480198G>C , CM000670.1:g.10480198G>C GRCh37
NC_000008.9:g.10517608G>C NCBI36
NG_028035.1:g.37420C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.514C>G MANE Select ENSP00000371923.3:p.His172Asp
ENST00000329335.3:n.764C>G
ENST00000382483.3:c.514C>G ENSP00000371923.3:p.His172Asp
NM_178857.5:c.514C>G NP_849188.4:p.His172Asp
NM_178857.6:c.514C>G MANE Select NP_849188.4:p.His172Asp
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