Canonical Allele Identifier: CA2911264

Gene: CNGA1 NIPAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47942059C>T , CM000666.2:g.47942059C>T	GRCh38
NC_000004.11:g.47944076C>T , CM000666.1:g.47944076C>T	GRCh37
NC_000004.10:g.47638833C>T	NCBI36
NG_009193.1:g.75886G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001379270.1:c.527G>A (CNGA1) MANE Select	NP_001366199.1:p.Trp176Ter
ENST00000514170.7:c.527G>A (CNGA1) MANE Select	ENSP00000426862.3:p.Trp176Ter
NM_000087.3:c.539G>A (CNGA1)	NP_000078.2:p.Trp180Ter
NM_000087.4:c.539G>A (CNGA1)	NP_000078.2:p.Trp180Ter
NM_000087.5:c.527G>A (CNGA1)	NP_000078.3:p.Trp176Ter
NM_001142564.1:c.746G>A (CNGA1)	NP_001136036.1:p.Trp249Ter
NM_001142564.2:c.527G>A (CNGA1)	NP_001136036.2:p.Trp176Ter
NM_001375386.1:c.539G>A (CNGA1)	NP_001362315.1:p.Trp180Ter
NR_125879.1:n.479-16965C>T
ENST00000358519.8:c.539G>A (CNGA1)	ENSP00000351320.4:p.Trp180Ter
ENST00000402813.7:c.746G>A (CNGA1)	ENSP00000384264.3:p.Trp249Ter
ENST00000402813.9:c.527G>A (CNGA1)	ENSP00000384264.5:p.Trp176Ter
ENST00000420489.6:c.539G>A (CNGA1)	ENSP00000389881.2:p.Trp180Ter
ENST00000420489.7:c.527G>A (CNGA1)	ENSP00000389881.3:p.Trp176Ter
ENST00000500571.2:n.479-16965C>T (NIPAL1)
ENST00000513724.1:n.563+27355C>T (NIPAL1)
ENST00000514170.5:c.539G>A (CNGA1)	ENSP00000426862.1:p.Trp180Ter
ENST00000544810.5:c.746G>A (CNGA1)	ENSP00000443401.2:p.Trp249Ter
XM_005248049.3:c.539G>A (CNGA1)	XP_005248106.1:p.Trp180Ter
XM_005248049.4:c.764G>A (CNGA1)	XP_005248106.2:p.Trp255Ter
XM_011513623.1:c.539G>A (CNGA1)	XP_011511925.1:p.Trp180Ter
XM_011513623.2:c.539G>A (CNGA1)	XP_011511925.1:p.Trp180Ter
XM_017007712.1:c.539G>A (CNGA1)	XP_016863201.1:p.Trp180Ter