Canonical Allele Identifier: CA339062716

Gene: RSRP1

Linked Data

• MyVariant Identifiers: chr1:g.25570103C>G (hg19) ; chr1:g.25243612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243612C>G , CM000663.2:g.25243612C>G	GRCh38
NC_000001.10:g.25570103C>G , CM000663.1:g.25570103C>G	GRCh37
NC_000001.9:g.25442690C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243189.12:c.694G>C MANE Select	ENSP00000243189.7:p.Asp232His
ENST00000243189.11:c.694G>C	ENSP00000243189.7:p.Asp232His
ENST00000473314.6:c.*649G>C	ENSP00000457582.1:n.*649G>C
ENST00000475766.2:n.245G>C
ENST00000498238.1:n.2422G>C
ENST00000564223.5:n.43G>C
ENST00000565733.5:c.371G>C
ENST00000566395.5:c.311G>C
ENST00000568254.5:c.*604G>C	ENSP00000457195.1:n.*604G>C
ENST00000569495.5:n.494G>C
ENST00000570063.5:n.1331G>C
NM_020317.3:c.694G>C	NP_064713.3:p.Asp232His
XM_011541797.1:c.694G>C	XP_011540099.1:p.Asp232His
XM_011541798.1:c.*57G>C	XP_011540100.1:n.*57G>C
XR_241200.1:n.1607G>C
XR_241201.1:n.1016G>C
XR_946709.1:n.2258G>C
XR_946710.1:n.1940G>C
XR_946711.1:n.1667G>C
XR_946712.1:n.1836G>C
XR_946713.1:n.1562G>C
NM_001321772.1:c.694G>C	NP_001308701.1:p.Asp232His
NM_020317.4:c.694G>C	NP_064713.3:p.Asp232His
NR_135143.1:n.2487G>C
NR_135144.1:n.1562G>C
NR_135777.1:n.2462G>C
NR_135778.1:n.1836G>C
NR_135780.1:n.1940G>C
NR_135781.1:n.1607G>C
NR_135782.1:n.1289G>C
NR_135783.1:n.1016G>C
NR_135784.1:n.2487G>C
NR_135785.1:n.1015G>C
NR_135786.1:n.2487G>C
NR_135787.1:n.2611G>C
NR_135788.1:n.2553G>C
NR_135789.1:n.3491G>C
XR_946709.2:n.2224G>C
NM_020317.5:c.694G>C MANE Select	NP_064713.3:p.Asp232His
NR_135784.2:n.2422G>C
NR_135786.2:n.2422G>C
NM_001321772.2:c.694G>C	NP_001308701.1:p.Asp232His
NR_135143.2:n.2422G>C
NR_135144.2:n.1497G>C
NR_135777.2:n.2462G>C
NR_135778.2:n.1771G>C
NR_135780.2:n.1875G>C
NR_135781.2:n.1542G>C
NR_135782.2:n.1224G>C
NR_135783.2:n.951G>C
NR_135785.2:n.950G>C
NR_135787.2:n.2611G>C
NR_135788.2:n.2553G>C
NR_135789.2:n.3491G>C