Canonical Allele Identifier: CA8074661

Gene: RSPRY1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57221451T>C , CM000678.2:g.57221451T>C	GRCh38
NC_000016.9:g.57255363T>C , CM000678.1:g.57255363T>C	GRCh37
NC_000016.8:g.55812864T>C	NCBI36
NG_046342.1:g.40168T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_133368.3:c.1161+36T>C MANE Select	NP_588609.1:n.1161+36T>C
ENST00000394420.9:c.1161+36T>C MANE Select	ENSP00000377942.4:n.1161+36T>C
NM_001305163.1:c.1161+36T>C	NP_001292092.1:n.1161+36T>C
NM_001305163.2:c.1161+36T>C	NP_001292092.1:n.1161+36T>C
NM_001305164.1:c.1161+36T>C	NP_001292093.1:n.1161+36T>C
NM_001305164.2:c.1161+36T>C	NP_001292093.1:n.1161+36T>C
NM_133368.1:c.1161+36T>C	NP_588609.1:n.1161+36T>C
NM_133368.2:c.1161+36T>C	NP_588609.1:n.1161+36T>C
ENST00000394420.8:c.1161+36T>C	ENSP00000377942.4:n.1161+36T>C
ENST00000537866.5:c.1161+36T>C	ENSP00000443176.1:n.1161+36T>C
ENST00000564530.5:n.1320+36T>C
XM_005256220.1:c.1161+36T>C	XP_005256277.1:n.1161+36T>C
XM_005256220.2:c.1161+36T>C	XP_005256277.1:n.1161+36T>C
XM_011523427.1:c.1254+36T>C	XP_011521729.1:n.1254+36T>C
XM_011523427.2:c.1254+36T>C	XP_011521729.1:n.1254+36T>C
XM_011523428.1:c.1254+36T>C	XP_011521730.1:n.1254+36T>C
XM_011523428.2:c.1254+36T>C	XP_011521730.1:n.1254+36T>C
XM_011523429.1:c.1254+36T>C	XP_011521731.1:n.1254+36T>C
XM_011523430.1:c.1254+36T>C	XP_011521732.1:n.1254+36T>C
XM_017023844.2:c.789+36T>C	XP_016879333.1:n.789+36T>C
XM_024450482.1:c.1254+36T>C	XP_024306250.1:n.1254+36T>C
XM_024450483.1:c.1254+36T>C	XP_024306251.1:n.1254+36T>C
XM_024450484.1:c.1161+36T>C	XP_024306252.1:n.1161+36T>C