Canonical Allele Identifier: CA4625693

Gene: RP1L1

Linked Data

• dbSNP Id: rs753080956
• ExAC: 8:10480262 G / A
• gnomAD v2: 8-10480262-G-A
• gnomAD v3: 8-10622752-G-A
• gnomAD v4: 8-10622752-G-A
• MyVariant Identifiers: chr8:g.10480262G>A (hg19) ; chr8:g.10622752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622752G>A , CM000670.2:g.10622752G>A	GRCh38
NC_000008.10:g.10480262G>A , CM000670.1:g.10480262G>A	GRCh37
NC_000008.9:g.10517672G>A	NCBI36
NG_028035.1:g.37356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.450C>T MANE Select	ENSP00000371923.3:p.Thr150=
ENST00000329335.3:n.700C>T
ENST00000382483.3:c.450C>T	ENSP00000371923.3:p.Thr150=
NM_178857.5:c.450C>T	NP_849188.4:p.Thr150=
NM_178857.6:c.450C>T MANE Select	NP_849188.4:p.Thr150=