Canonical Allele Identifier: CA339062638

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570085T>G (hg19) ; chr1:g.25243594T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243594T>G , CM000663.2:g.25243594T>G	GRCh38
NC_000001.10:g.25570085T>G , CM000663.1:g.25570085T>G	GRCh37
NC_000001.9:g.25442672T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000243189.12:c.712A>C MANE Select	ENSP00000243189.7:p.Asn238His
ENST00000243189.11:c.712A>C	ENSP00000243189.7:p.Asn238His
ENST00000473314.6:c.*667A>C	ENSP00000457582.1:n.*667A>C
ENST00000475766.2:n.263A>C
ENST00000498238.1:n.2440A>C
ENST00000564223.5:n.61A>C
ENST00000565733.5:c.389A>C
ENST00000566395.5:c.329A>C
ENST00000568254.5:c.*622A>C	ENSP00000457195.1:n.*622A>C
ENST00000569495.5:n.512A>C
ENST00000570063.5:n.1349A>C
NM_020317.3:c.712A>C	NP_064713.3:p.Asn238His
XM_011541797.1:c.712A>C	XP_011540099.1:p.Asn238His
XM_011541798.1:c.*75A>C	XP_011540100.1:n.*75A>C
XR_241200.1:n.1625A>C
XR_241201.1:n.1034A>C
XR_946709.1:n.2276A>C
XR_946710.1:n.1958A>C
XR_946711.1:n.1685A>C
XR_946712.1:n.1854A>C
XR_946713.1:n.1580A>C
NM_001321772.1:c.712A>C	NP_001308701.1:p.Asn238His
NM_020317.4:c.712A>C	NP_064713.3:p.Asn238His
NR_135143.1:n.2505A>C
NR_135144.1:n.1580A>C
NR_135777.1:n.2480A>C
NR_135778.1:n.1854A>C
NR_135780.1:n.1958A>C
NR_135781.1:n.1625A>C
NR_135782.1:n.1307A>C
NR_135783.1:n.1034A>C
NR_135784.1:n.2505A>C
NR_135785.1:n.1033A>C
NR_135786.1:n.2505A>C
NR_135787.1:n.2629A>C
NR_135788.1:n.2571A>C
NR_135789.1:n.3509A>C
XR_946709.2:n.2242A>C
NM_020317.5:c.712A>C MANE Select	NP_064713.3:p.Asn238His
NR_135784.2:n.2440A>C
NR_135786.2:n.2440A>C
NM_001321772.2:c.712A>C	NP_001308701.1:p.Asn238His
NR_135143.2:n.2440A>C
NR_135144.2:n.1515A>C
NR_135777.2:n.2480A>C
NR_135778.2:n.1789A>C
NR_135780.2:n.1893A>C
NR_135781.2:n.1560A>C
NR_135782.2:n.1242A>C
NR_135783.2:n.969A>C
NR_135785.2:n.968A>C
NR_135787.2:n.2629A>C
NR_135788.2:n.2571A>C
NR_135789.2:n.3509A>C