Canonical Allele Identifier: CA344044317

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434849-C-G
• MyVariant Identifiers: chr1:g.197403979C>G (hg19) ; chr1:g.197434849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434849C>G , CM000663.2:g.197434849C>G	GRCh38
NC_000001.10:g.197403979C>G , CM000663.1:g.197403979C>G	GRCh37
NC_000001.9:g.195670602C>G	NCBI36
NG_008483.1:g.171572C>G
NG_008483.2:g.238388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2986C>G MANE Select	ENSP00000356370.3:p.Pro996Ala
ENST00000638467.1:c.2986C>G	ENSP00000491102.1:p.Pro996Ala
ENST00000681519.1:c.1867C>G	ENSP00000505267.1:p.Pro623Ala
ENST00000367397.1:c.1129C>G	ENSP00000356367.1:p.Pro377Ala
ENST00000367399.6:c.2650C>G	ENSP00000356369.2:p.Pro884Ala
ENST00000367400.7:c.2986C>G	ENSP00000356370.3:p.Pro996Ala
ENST00000484075.5:c.2986C>G	ENSP00000433932.1:p.Pro996Ala
ENST00000535699.5:c.2914C>G	ENSP00000438786.1:p.Pro972Ala
ENST00000538660.5:c.2129-751C>G	ENSP00000438091.1:n.2129-751C>G
NM_001193640.1:c.2650C>G	NP_001180569.1:p.Pro884Ala
NM_001257965.1:c.2914C>G	NP_001244894.1:p.Pro972Ala
NM_001257966.1:c.2129-751C>G	NP_001244895.1:n.2129-751C>G
NM_201253.2:c.2986C>G	NP_957705.1:p.Pro996Ala
NR_047563.1:n.2987C>G
NR_047564.1:n.3195C>G
XM_011509365.1:c.2986C>G	XP_011507667.1:p.Pro996Ala
XM_011509366.1:c.2986C>G	XP_011507668.1:p.Pro996Ala
XM_011509367.1:c.2986C>G	XP_011507669.1:p.Pro996Ala
XM_011509368.1:c.2404C>G	XP_011507670.1:p.Pro802Ala
XM_011509369.1:c.1429C>G	XP_011507671.1:p.Pro477Ala
XM_011509365.2:c.2986C>G	XP_011507667.1:p.Pro996Ala
XM_011509369.2:c.1429C>G	XP_011507671.1:p.Pro477Ala
XM_017000851.1:c.2143C>G	XP_016856340.1:p.Pro715Ala
XM_017000852.1:c.3121C>G	XP_016856341.1:p.Pro1041Ala
NM_201253.3:c.2986C>G MANE Select	NP_957705.1:p.Pro996Ala
NM_001193640.2:c.2650C>G	NP_001180569.1:p.Pro884Ala
NM_001257965.2:c.2914C>G	NP_001244894.1:p.Pro972Ala
NR_047563.2:n.2939C>G
NR_047564.2:n.3147C>G
NM_001257966.2:c.2129-751C>G	NP_001244895.1:n.2129-751C>G