Canonical Allele Identifier: CA344035372

Gene: CRB1

Linked Data

• dbSNP Id: rs1230642379
• MyVariant Identifiers: chr1:g.197446794T>G (hg19) ; chr1:g.197477664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477664T>G , CM000663.2:g.197477664T>G	GRCh38
NC_000001.10:g.197446794T>G , CM000663.1:g.197446794T>G	GRCh37
NC_000001.9:g.195713417T>G	NCBI36
NG_008483.1:g.214387T>G
NG_008483.2:g.281203T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4006T>G MANE Select	ENSP00000356370.3:p.Leu1336Val
ENST00000367399.6:c.3670T>G	ENSP00000356369.2:p.Leu1224Val
ENST00000367400.7:c.4006T>G	ENSP00000356370.3:p.Leu1336Val
ENST00000448952.1:c.240T>G	ENSP00000395407.1:n.240T>G
ENST00000484075.5:c.*117T>G	ENSP00000433932.1:n.*117T>G
ENST00000535699.5:c.3934T>G	ENSP00000438786.1:p.Leu1312Val
ENST00000538660.5:c.2398T>G	ENSP00000438091.1:p.Leu800Val
NM_001193640.1:c.3670T>G	NP_001180569.1:p.Leu1224Val
NM_001257965.1:c.3934T>G	NP_001244894.1:p.Leu1312Val
NM_001257966.1:c.2398T>G	NP_001244895.1:p.Leu800Val
NM_201253.2:c.4006T>G	NP_957705.1:p.Leu1336Val
NR_047563.1:n.4007T>G
NR_047564.1:n.4457T>G
XM_011509366.1:c.*111T>G	XP_011507668.1:n.*111T>G
XM_011509367.1:c.3879T>G	XP_011507669.1:p.Cys1293Trp
XM_011509368.1:c.3424T>G	XP_011507670.1:p.Leu1142Val
XM_011509369.1:c.2449T>G	XP_011507671.1:p.Leu817Val
XM_011509369.2:c.2449T>G	XP_011507671.1:p.Leu817Val
XM_017000851.1:c.3163T>G	XP_016856340.1:p.Leu1055Val
XM_017000852.1:c.4141T>G	XP_016856341.1:p.Leu1381Val
NM_201253.3:c.4006T>G MANE Select	NP_957705.1:p.Leu1336Val
NM_001193640.2:c.3670T>G	NP_001180569.1:p.Leu1224Val
NM_001257965.2:c.3934T>G	NP_001244894.1:p.Leu1312Val
NR_047563.2:n.3959T>G
NR_047564.2:n.4409T>G
NM_001257966.2:c.2398T>G	NP_001244895.1:p.Leu800Val