Canonical Allele Identifier: CA344046041

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404143G>T (hg19) ; chr1:g.197435013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435013G>T , CM000663.2:g.197435013G>T	GRCh38
NC_000001.10:g.197404143G>T , CM000663.1:g.197404143G>T	GRCh37
NC_000001.9:g.195670766G>T	NCBI36
NG_008483.1:g.171736G>T
NG_008483.2:g.238552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3150G>T MANE Select	ENSP00000356370.3:p.Arg1050Ser
ENST00000638467.1:c.3150G>T	ENSP00000491102.1:p.Arg1050Ser
ENST00000681519.1:c.2031G>T	ENSP00000505267.1:p.Arg677Ser
ENST00000367397.1:c.1293G>T	ENSP00000356367.1:p.Arg431Ser
ENST00000367399.6:c.2814G>T	ENSP00000356369.2:p.Arg938Ser
ENST00000367400.7:c.3150G>T	ENSP00000356370.3:p.Arg1050Ser
ENST00000484075.5:c.3150G>T	ENSP00000433932.1:p.Arg1050Ser
ENST00000535699.5:c.3078G>T	ENSP00000438786.1:p.Arg1026Ser
ENST00000538660.5:c.2129-587G>T	ENSP00000438091.1:n.2129-587G>T
NM_001193640.1:c.2814G>T	NP_001180569.1:p.Arg938Ser
NM_001257965.1:c.3078G>T	NP_001244894.1:p.Arg1026Ser
NM_001257966.1:c.2129-587G>T	NP_001244895.1:n.2129-587G>T
NM_201253.2:c.3150G>T	NP_957705.1:p.Arg1050Ser
NR_047563.1:n.3151G>T
NR_047564.1:n.3359G>T
XM_011509365.1:c.3150G>T	XP_011507667.1:p.Arg1050Ser
XM_011509366.1:c.3150G>T	XP_011507668.1:p.Arg1050Ser
XM_011509367.1:c.3150G>T	XP_011507669.1:p.Arg1050Ser
XM_011509368.1:c.2568G>T	XP_011507670.1:p.Arg856Ser
XM_011509369.1:c.1593G>T	XP_011507671.1:p.Arg531Ser
XM_011509365.2:c.3150G>T	XP_011507667.1:p.Arg1050Ser
XM_011509369.2:c.1593G>T	XP_011507671.1:p.Arg531Ser
XM_017000851.1:c.2307G>T	XP_016856340.1:p.Arg769Ser
XM_017000852.1:c.3285G>T	XP_016856341.1:p.Arg1095Ser
NM_201253.3:c.3150G>T MANE Select	NP_957705.1:p.Arg1050Ser
NM_001193640.2:c.2814G>T	NP_001180569.1:p.Arg938Ser
NM_001257965.2:c.3078G>T	NP_001244894.1:p.Arg1026Ser
NR_047563.2:n.3103G>T
NR_047564.2:n.3311G>T
NM_001257966.2:c.2129-587G>T	NP_001244895.1:n.2129-587G>T