Canonical Allele Identifier: CA693563

Gene: RSRP1

Linked Data

• dbSNP Id: rs373968289
• ExAC: 1:25570091 T / C
• gnomAD v2: 1-25570091-T-C
• MyVariant Identifiers: chr1:g.25570091T>C (hg19) ; chr1:g.25243600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243600T>C , CM000663.2:g.25243600T>C	GRCh38
NC_000001.10:g.25570091T>C , CM000663.1:g.25570091T>C	GRCh37
NC_000001.9:g.25442678T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000243189.12:c.706A>G MANE Select	ENSP00000243189.7:p.Asn236Asp
ENST00000243189.11:c.706A>G	ENSP00000243189.7:p.Asn236Asp
ENST00000473314.6:c.*661A>G	ENSP00000457582.1:n.*661A>G
ENST00000475766.2:n.257A>G
ENST00000498238.1:n.2434A>G
ENST00000564223.5:n.55A>G
ENST00000565733.5:c.383A>G
ENST00000566395.5:c.323A>G
ENST00000568254.5:c.*616A>G	ENSP00000457195.1:n.*616A>G
ENST00000569495.5:n.506A>G
ENST00000570063.5:n.1343A>G
NM_020317.3:c.706A>G	NP_064713.3:p.Asn236Asp
XM_011541797.1:c.706A>G	XP_011540099.1:p.Asn236Asp
XM_011541798.1:c.*69A>G	XP_011540100.1:n.*69A>G
XR_241200.1:n.1619A>G
XR_241201.1:n.1028A>G
XR_946709.1:n.2270A>G
XR_946710.1:n.1952A>G
XR_946711.1:n.1679A>G
XR_946712.1:n.1848A>G
XR_946713.1:n.1574A>G
NM_001321772.1:c.706A>G	NP_001308701.1:p.Asn236Asp
NM_020317.4:c.706A>G	NP_064713.3:p.Asn236Asp
NR_135143.1:n.2499A>G
NR_135144.1:n.1574A>G
NR_135777.1:n.2474A>G
NR_135778.1:n.1848A>G
NR_135780.1:n.1952A>G
NR_135781.1:n.1619A>G
NR_135782.1:n.1301A>G
NR_135783.1:n.1028A>G
NR_135784.1:n.2499A>G
NR_135785.1:n.1027A>G
NR_135786.1:n.2499A>G
NR_135787.1:n.2623A>G
NR_135788.1:n.2565A>G
NR_135789.1:n.3503A>G
XR_946709.2:n.2236A>G
NM_020317.5:c.706A>G MANE Select	NP_064713.3:p.Asn236Asp
NR_135784.2:n.2434A>G
NR_135786.2:n.2434A>G
NM_001321772.2:c.706A>G	NP_001308701.1:p.Asn236Asp
NR_135143.2:n.2434A>G
NR_135144.2:n.1509A>G
NR_135777.2:n.2474A>G
NR_135778.2:n.1783A>G
NR_135780.2:n.1887A>G
NR_135781.2:n.1554A>G
NR_135782.2:n.1236A>G
NR_135783.2:n.963A>G
NR_135785.2:n.962A>G
NR_135787.2:n.2623A>G
NR_135788.2:n.2565A>G
NR_135789.2:n.3503A>G