Canonical Allele Identifier: CA422809231

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435076C>T , CM000663.2:g.197435076C>T	GRCh38
NC_000001.10:g.197404206C>T , CM000663.1:g.197404206C>T	GRCh37
NC_000001.9:g.195670829C>T	NCBI36
NG_008483.1:g.171799C>T
NG_008483.2:g.238615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201253.3:c.3213C>T MANE Select	NP_957705.1:p.Leu1071=
ENST00000367400.8:c.3213C>T MANE Select	ENSP00000356370.3:p.Leu1071=
NM_001193640.1:c.2877C>T	NP_001180569.1:p.Leu959=
NM_001193640.2:c.2877C>T	NP_001180569.1:p.Leu959=
NM_001257965.1:c.3141C>T	NP_001244894.1:p.Leu1047=
NM_001257965.2:c.3141C>T	NP_001244894.1:p.Leu1047=
NM_001257966.1:c.2129-524C>T	NP_001244895.1:n.2129-524C>T
NM_001257966.2:c.2129-524C>T	NP_001244895.1:n.2129-524C>T
NM_201253.2:c.3213C>T	NP_957705.1:p.Leu1071=
NR_047563.1:n.3214C>T
NR_047563.2:n.3166C>T
NR_047564.1:n.3422C>T
NR_047564.2:n.3374C>T
ENST00000367397.1:c.1356C>T	ENSP00000356367.1:p.Leu452=
ENST00000367399.6:c.2877C>T	ENSP00000356369.2:p.Leu959=
ENST00000367400.7:c.3213C>T	ENSP00000356370.3:p.Leu1071=
ENST00000484075.5:c.3213C>T	ENSP00000433932.1:p.Leu1071=
ENST00000535699.5:c.3141C>T	ENSP00000438786.1:p.Leu1047=
ENST00000538660.5:c.2129-524C>T	ENSP00000438091.1:n.2129-524C>T
ENST00000638467.1:c.3213C>T	ENSP00000491102.1:p.Leu1071=
ENST00000681519.1:c.2094C>T	ENSP00000505267.1:p.Leu698=
XM_011509365.1:c.3213C>T	XP_011507667.1:p.Leu1071=
XM_011509365.2:c.3213C>T	XP_011507667.1:p.Leu1071=
XM_011509366.1:c.3213C>T	XP_011507668.1:p.Leu1071=
XM_011509367.1:c.3213C>T	XP_011507669.1:p.Leu1071=
XM_011509368.1:c.2631C>T	XP_011507670.1:p.Leu877=
XM_011509369.1:c.1656C>T	XP_011507671.1:p.Leu552=
XM_011509369.2:c.1656C>T	XP_011507671.1:p.Leu552=
XM_017000851.1:c.2370C>T	XP_016856340.1:p.Leu790=
XM_017000852.1:c.3348C>T	XP_016856341.1:p.Leu1116=