Canonical Allele Identifier: CA367262485

Gene: NPSR1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34849570A>C , CM000669.2:g.34849570A>C	GRCh38
NC_000007.13:g.34889182A>C , CM000669.1:g.34889182A>C	GRCh37
NC_000007.12:g.34855707A>C	NCBI36
NG_012185.1:g.196286A>C
NG_012185.2:g.196286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360581.6:c.1031A>C MANE Select	ENSP00000353788.1:p.Gln344Pro
ENST00000359791.5:c.1025+907A>C	ENSP00000352839.1:n.1025+907A>C
ENST00000360581.5:c.1031A>C	ENSP00000353788.1:p.Gln344Pro
ENST00000381539.3:c.1131A>C	ENSP00000370950.3:p.Ala377=
ENST00000381542.5:c.833A>C	ENSP00000370953.1:p.Gln278Pro
ENST00000381544.6:c.*450A>C	ENSP00000370955.2:n.*450A>C
ENST00000396095.6:c.*526A>C	ENSP00000379402.2:n.*526A>C
ENST00000531252.5:c.992+907A>C	ENSP00000433258.1:n.992+907A>C
NM_001300933.1:c.992+907A>C	NP_001287862.1:n.992+907A>C
NM_001300934.1:c.833A>C	NP_001287863.1:p.Gln278Pro
NM_001300935.1:c.1131A>C	NP_001287864.1:p.Ala377=
NM_207172.1:c.1031A>C	NP_997055.1:p.Gln344Pro
NM_207173.1:c.1025+907A>C	NP_997056.1:n.1025+907A>C
NM_001300933.2:c.992+907A>C	NP_001287862.1:n.992+907A>C
NM_207172.2:c.1031A>C MANE Select	NP_997055.1:p.Gln344Pro
NM_207173.2:c.1025+907A>C	NP_997056.1:n.1025+907A>C
NM_001300934.2:c.833A>C	NP_001287863.1:p.Gln278Pro
NM_001300935.2:c.1131A>C	NP_001287864.1:p.Ala377=