Canonical Allele Identifier: CA344032616

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390745C>T (hg19) ; chr1:g.197421615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421615C>T , CM000663.2:g.197421615C>T	GRCh38
NC_000001.10:g.197390745C>T , CM000663.1:g.197390745C>T	GRCh37
NC_000001.9:g.195657368C>T	NCBI36
NG_008483.1:g.158338C>T
NG_008483.2:g.225154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1787C>T MANE Select	ENSP00000356370.3:p.Pro596Leu
ENST00000638467.1:c.1787C>T	ENSP00000491102.1:p.Pro596Leu
ENST00000681519.1:c.668C>T	ENSP00000505267.1:p.Pro223Leu
ENST00000367397.1:c.-71C>T	ENSP00000356367.1:n.-71C>T
ENST00000367399.6:c.1451C>T	ENSP00000356369.2:p.Pro484Leu
ENST00000367400.7:c.1787C>T	ENSP00000356370.3:p.Pro596Leu
ENST00000484075.5:c.1787C>T	ENSP00000433932.1:p.Pro596Leu
ENST00000535699.5:c.1580C>T	ENSP00000438786.1:p.Pro527Leu
ENST00000538660.5:c.1787C>T	ENSP00000438091.1:p.Pro596Leu
NM_001193640.1:c.1451C>T	NP_001180569.1:p.Pro484Leu
NM_001257965.1:c.1580C>T	NP_001244894.1:p.Pro527Leu
NM_001257966.1:c.1787C>T	NP_001244895.1:p.Pro596Leu
NM_201253.2:c.1787C>T	NP_957705.1:p.Pro596Leu
NR_047563.1:n.1922+74C>T
NR_047564.1:n.1996C>T
XM_011509365.1:c.1787C>T	XP_011507667.1:p.Pro596Leu
XM_011509366.1:c.1787C>T	XP_011507668.1:p.Pro596Leu
XM_011509367.1:c.1787C>T	XP_011507669.1:p.Pro596Leu
XM_011509368.1:c.1205C>T	XP_011507670.1:p.Pro402Leu
XM_011509369.1:c.230C>T	XP_011507671.1:p.Pro77Leu
XM_011509365.2:c.1787C>T	XP_011507667.1:p.Pro596Leu
XM_011509369.2:c.230C>T	XP_011507671.1:p.Pro77Leu
XM_017000851.1:c.944C>T	XP_016856340.1:p.Pro315Leu
XM_017000852.1:c.1787C>T	XP_016856341.1:p.Pro596Leu
NM_201253.3:c.1787C>T MANE Select	NP_957705.1:p.Pro596Leu
NM_001193640.2:c.1451C>T	NP_001180569.1:p.Pro484Leu
NM_001257965.2:c.1580C>T	NP_001244894.1:p.Pro527Leu
NR_047563.2:n.1874+74C>T
NR_047564.2:n.1948C>T
NM_001257966.2:c.1787C>T	NP_001244895.1:p.Pro596Leu