Canonical Allele Identifier: CA351286384

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576661-A-C
• MyVariant Identifiers: chr2:g.241516078A>C (hg19) ; chr2:g.240576661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576661A>C , CM000664.2:g.240576661A>C	GRCh38
NC_000002.11:g.241516078A>C , CM000664.1:g.241516078A>C	GRCh37
NC_000002.10:g.241164751A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1637A>C MANE Select	ENSP00000270357.4:p.Asp546Ala
ENST00000270357.8:c.944A>C	ENSP00000270357.3:p.Asp315Ala
ENST00000437406.1:c.203A>C	ENSP00000403319.1:p.Asp68Ala
ENST00000451363.5:c.278A>C	ENSP00000414661.1:p.Asp93Ala
ENST00000464550.5:n.473A>C
ENST00000471657.1:n.440A>C
ENST00000481757.5:n.2571A>C
ENST00000486058.5:n.1750A>C
ENST00000493398.5:n.783A>C
NM_018226.4:c.1637A>C	NP_060696.4:p.Asp546Ala
XM_005247036.3:c.1604A>C	XP_005247093.1:p.Asp535Ala
NM_018226.5:c.1637A>C	NP_060696.4:p.Asp546Ala
XM_005247036.4:c.1604A>C	XP_005247093.1:p.Asp535Ala
NM_018226.6:c.1637A>C MANE Select	NP_060696.4:p.Asp546Ala