Canonical Allele Identifier: CA344035491

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197446837C>T (hg19) ; chr1:g.197477707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477707C>T , CM000663.2:g.197477707C>T	GRCh38
NC_000001.10:g.197446837C>T , CM000663.1:g.197446837C>T	GRCh37
NC_000001.9:g.195713460C>T	NCBI36
NG_008483.1:g.214430C>T
NG_008483.2:g.281246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4049C>T MANE Select	ENSP00000356370.3:p.Ser1350Leu
ENST00000367399.6:c.3713C>T	ENSP00000356369.2:p.Ser1238Leu
ENST00000367400.7:c.4049C>T	ENSP00000356370.3:p.Ser1350Leu
ENST00000448952.1:c.283C>T	ENSP00000395407.1:n.283C>T
ENST00000484075.5:c.*160C>T	ENSP00000433932.1:n.*160C>T
ENST00000535699.5:c.3977C>T	ENSP00000438786.1:p.Ser1326Leu
ENST00000538660.5:c.2441C>T	ENSP00000438091.1:p.Ser814Leu
NM_001193640.1:c.3713C>T	NP_001180569.1:p.Ser1238Leu
NM_001257965.1:c.3977C>T	NP_001244894.1:p.Ser1326Leu
NM_001257966.1:c.2441C>T	NP_001244895.1:p.Ser814Leu
NM_201253.2:c.4049C>T	NP_957705.1:p.Ser1350Leu
NR_047563.1:n.4050C>T
NR_047564.1:n.4500C>T
XM_011509366.1:c.*154C>T	XP_011507668.1:n.*154C>T
XM_011509367.1:c.*28C>T	XP_011507669.1:n.*28C>T
XM_011509368.1:c.3467C>T	XP_011507670.1:p.Ser1156Leu
XM_011509369.1:c.2492C>T	XP_011507671.1:p.Ser831Leu
XM_011509369.2:c.2492C>T	XP_011507671.1:p.Ser831Leu
XM_017000851.1:c.3206C>T	XP_016856340.1:p.Ser1069Leu
XM_017000852.1:c.4184C>T	XP_016856341.1:p.Ser1395Leu
NM_201253.3:c.4049C>T MANE Select	NP_957705.1:p.Ser1350Leu
NM_001193640.2:c.3713C>T	NP_001180569.1:p.Ser1238Leu
NM_001257965.2:c.3977C>T	NP_001244894.1:p.Ser1326Leu
NR_047563.2:n.4002C>T
NR_047564.2:n.4452C>T
NM_001257966.2:c.2441C>T	NP_001244895.1:p.Ser814Leu