Canonical Allele Identifier: CA370300185
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622772A>C , CM000670.2:g.10622772A>C GRCh38
NC_000008.10:g.10480282A>C , CM000670.1:g.10480282A>C GRCh37
NC_000008.9:g.10517692A>C NCBI36
NG_028035.1:g.37336T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.430T>G MANE Select ENSP00000371923.3:p.Ser144Ala
ENST00000329335.3:n.680T>G
ENST00000382483.3:c.430T>G ENSP00000371923.3:p.Ser144Ala
NM_178857.5:c.430T>G NP_849188.4:p.Ser144Ala
NM_178857.6:c.430T>G MANE Select NP_849188.4:p.Ser144Ala