Canonical Allele Identifier: CA344050250

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435516G>C , CM000663.2:g.197435516G>C	GRCh38
NC_000001.10:g.197404646G>C , CM000663.1:g.197404646G>C	GRCh37
NC_000001.9:g.195671269G>C	NCBI36
NG_008483.1:g.172239G>C
NG_008483.2:g.239055G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3653G>C MANE Select	NP_957705.1:p.Cys1218Ser
ENST00000367400.8:c.3653G>C MANE Select	ENSP00000356370.3:p.Cys1218Ser
NM_001193640.1:c.3317G>C	NP_001180569.1:p.Cys1106Ser
NM_001193640.2:c.3317G>C	NP_001180569.1:p.Cys1106Ser
NM_001257965.1:c.3581G>C	NP_001244894.1:p.Cys1194Ser
NM_001257965.2:c.3581G>C	NP_001244894.1:p.Cys1194Ser
NM_001257966.1:c.2129-84G>C	NP_001244895.1:n.2129-84G>C
NM_001257966.2:c.2129-84G>C	NP_001244895.1:n.2129-84G>C
NM_201253.2:c.3653G>C	NP_957705.1:p.Cys1218Ser
NR_047563.1:n.3654G>C
NR_047563.2:n.3606G>C
NR_047564.1:n.3862G>C
NR_047564.2:n.3814G>C
ENST00000367397.1:c.1796G>C	ENSP00000356367.1:p.Cys599Ser
ENST00000367399.6:c.3317G>C	ENSP00000356369.2:p.Cys1106Ser
ENST00000367400.7:c.3653G>C	ENSP00000356370.3:p.Cys1218Ser
ENST00000484075.5:c.3653G>C	ENSP00000433932.1:p.Cys1218Ser
ENST00000535699.5:c.3581G>C	ENSP00000438786.1:p.Cys1194Ser
ENST00000538660.5:c.2129-84G>C	ENSP00000438091.1:n.2129-84G>C
ENST00000638467.1:c.3653G>C	ENSP00000491102.1:p.Cys1218Ser
ENST00000681519.1:c.2534G>C	ENSP00000505267.1:p.Cys845Ser
XM_011509365.1:c.3653G>C	XP_011507667.1:p.Cys1218Ser
XM_011509365.2:c.3653G>C	XP_011507667.1:p.Cys1218Ser
XM_011509366.1:c.3653G>C	XP_011507668.1:p.Cys1218Ser
XM_011509367.1:c.3653G>C	XP_011507669.1:p.Cys1218Ser
XM_011509368.1:c.3071G>C	XP_011507670.1:p.Cys1024Ser
XM_011509369.1:c.2096G>C	XP_011507671.1:p.Cys699Ser
XM_011509369.2:c.2096G>C	XP_011507671.1:p.Cys699Ser
XM_017000851.1:c.2810G>C	XP_016856340.1:p.Cys937Ser
XM_017000852.1:c.3788G>C	XP_016856341.1:p.Cys1263Ser