Canonical Allele Identifier: CA1218063180

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421566C= , CM000663.2:g.197421566C=	GRCh38
NC_000001.10:g.197390696C= , CM000663.1:g.197390696C=	GRCh37
NC_000001.9:g.195657319C=	NCBI36
NG_008483.1:g.158289C=
NG_008483.2:g.225105C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1738C= MANE Select	ENSP00000356370.3:p.Leu580=
ENST00000638467.1:c.1738C=	ENSP00000491102.1:p.Leu580=
ENST00000681519.1:c.619C=	ENSP00000505267.1:p.Leu207=
ENST00000367397.1:c.-120C=	ENSP00000356367.1:n.-120C=
ENST00000367399.6:c.1402C=	ENSP00000356369.2:p.Leu468=
ENST00000367400.7:c.1738C=	ENSP00000356370.3:p.Leu580=
ENST00000484075.5:c.1738C=	ENSP00000433932.1:p.Leu580=
ENST00000535699.5:c.1531C=	ENSP00000438786.1:p.Leu511=
ENST00000538660.5:c.1738C=	ENSP00000438091.1:p.Leu580=
NM_001193640.1:c.1402C=	NP_001180569.1:p.Leu468=
NM_001257965.1:c.1531C=	NP_001244894.1:p.Leu511=
NM_001257966.1:c.1738C=	NP_001244895.1:p.Leu580=
NM_201253.2:c.1738C=	NP_957705.1:p.Leu580=
NR_047563.1:n.1922+25C=
NR_047564.1:n.1947C=
XM_011509365.1:c.1738C=	XP_011507667.1:p.Leu580=
XM_011509366.1:c.1738C=	XP_011507668.1:p.Leu580=
XM_011509367.1:c.1738C=	XP_011507669.1:p.Leu580=
XM_011509368.1:c.1156C=	XP_011507670.1:p.Leu386=
XM_011509369.1:c.181C=	XP_011507671.1:p.Leu61=
XM_011509365.2:c.1738C=	XP_011507667.1:p.Leu580=
XM_011509369.2:c.181C=	XP_011507671.1:p.Leu61=
XM_017000851.1:c.895C=	XP_016856340.1:p.Leu299=
XM_017000852.1:c.1738C=	XP_016856341.1:p.Leu580=
NM_201253.3:c.1738C= MANE Select	NP_957705.1:p.Leu580=
NM_001193640.2:c.1402C=	NP_001180569.1:p.Leu468=
NM_001257965.2:c.1531C=	NP_001244894.1:p.Leu511=
NR_047563.2:n.1874+25C=
NR_047564.2:n.1899C=
NM_001257966.2:c.1738C=	NP_001244895.1:p.Leu580=