Canonical Allele Identifier: CA344041279

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429581G>C , CM000663.2:g.197429581G>C	GRCh38
NC_000001.10:g.197398711G>C , CM000663.1:g.197398711G>C	GRCh37
NC_000001.9:g.195665334G>C	NCBI36
NG_008483.1:g.166304G>C
NG_008483.2:g.233120G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.2809G>C MANE Select	NP_957705.1:p.Ala937Pro
ENST00000367400.8:c.2809G>C MANE Select	ENSP00000356370.3:p.Ala937Pro
NM_001193640.1:c.2473G>C	NP_001180569.1:p.Ala825Pro
NM_001193640.2:c.2473G>C	NP_001180569.1:p.Ala825Pro
NM_001257965.1:c.2737G>C	NP_001244894.1:p.Ala913Pro
NM_001257965.2:c.2737G>C	NP_001244894.1:p.Ala913Pro
NM_001257966.1:c.2129-6019G>C	NP_001244895.1:n.2129-6019G>C
NM_001257966.2:c.2129-6019G>C	NP_001244895.1:n.2129-6019G>C
NM_201253.2:c.2809G>C	NP_957705.1:p.Ala937Pro
NR_047563.1:n.2810G>C
NR_047563.2:n.2762G>C
NR_047564.1:n.3018G>C
NR_047564.2:n.2970G>C
ENST00000367397.1:c.952G>C	ENSP00000356367.1:p.Ala318Pro
ENST00000367399.6:c.2473G>C	ENSP00000356369.2:p.Ala825Pro
ENST00000367400.7:c.2809G>C	ENSP00000356370.3:p.Ala937Pro
ENST00000484075.5:c.2809G>C	ENSP00000433932.1:p.Ala937Pro
ENST00000535699.5:c.2737G>C	ENSP00000438786.1:p.Ala913Pro
ENST00000538660.5:c.2129-6019G>C	ENSP00000438091.1:n.2129-6019G>C
ENST00000638467.1:c.2809G>C	ENSP00000491102.1:p.Ala937Pro
ENST00000681519.1:c.1690G>C	ENSP00000505267.1:p.Ala564Pro
XM_011509365.1:c.2809G>C	XP_011507667.1:p.Ala937Pro
XM_011509365.2:c.2809G>C	XP_011507667.1:p.Ala937Pro
XM_011509366.1:c.2809G>C	XP_011507668.1:p.Ala937Pro
XM_011509367.1:c.2809G>C	XP_011507669.1:p.Ala937Pro
XM_011509368.1:c.2227G>C	XP_011507670.1:p.Ala743Pro
XM_011509369.1:c.1252G>C	XP_011507671.1:p.Ala418Pro
XM_011509369.2:c.1252G>C	XP_011507671.1:p.Ala418Pro
XM_017000851.1:c.1966G>C	XP_016856340.1:p.Ala656Pro
XM_017000852.1:c.2944G>C	XP_016856341.1:p.Ala982Pro