Canonical Allele Identifier: CA344040430

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1460689
• ClinVar RCV Id: RCV001983137
• dbSNP Id: rs2125488768
• MyVariant Identifiers: chr1:g.197398600G>A (hg19) ; chr1:g.197429470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429470G>A , CM000663.2:g.197429470G>A	GRCh38
NC_000001.10:g.197398600G>A , CM000663.1:g.197398600G>A	GRCh37
NC_000001.9:g.195665223G>A	NCBI36
NG_008483.1:g.166193G>A
NG_008483.2:g.233009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2698G>A MANE Select	ENSP00000356370.3:p.Gly900Ser
ENST00000638467.1:c.2698G>A	ENSP00000491102.1:p.Gly900Ser
ENST00000681519.1:c.1579G>A	ENSP00000505267.1:p.Gly527Ser
ENST00000367397.1:c.841G>A	ENSP00000356367.1:p.Gly281Ser
ENST00000367399.6:c.2362G>A	ENSP00000356369.2:p.Gly788Ser
ENST00000367400.7:c.2698G>A	ENSP00000356370.3:p.Gly900Ser
ENST00000484075.5:c.2698G>A	ENSP00000433932.1:p.Gly900Ser
ENST00000535699.5:c.2626G>A	ENSP00000438786.1:p.Gly876Ser
ENST00000538660.5:c.2129-6130G>A	ENSP00000438091.1:n.2129-6130G>A
NM_001193640.1:c.2362G>A	NP_001180569.1:p.Gly788Ser
NM_001257965.1:c.2626G>A	NP_001244894.1:p.Gly876Ser
NM_001257966.1:c.2129-6130G>A	NP_001244895.1:n.2129-6130G>A
NM_201253.2:c.2698G>A	NP_957705.1:p.Gly900Ser
NR_047563.1:n.2699G>A
NR_047564.1:n.2907G>A
XM_011509365.1:c.2698G>A	XP_011507667.1:p.Gly900Ser
XM_011509366.1:c.2698G>A	XP_011507668.1:p.Gly900Ser
XM_011509367.1:c.2698G>A	XP_011507669.1:p.Gly900Ser
XM_011509368.1:c.2116G>A	XP_011507670.1:p.Gly706Ser
XM_011509369.1:c.1141G>A	XP_011507671.1:p.Gly381Ser
XM_011509365.2:c.2698G>A	XP_011507667.1:p.Gly900Ser
XM_011509369.2:c.1141G>A	XP_011507671.1:p.Gly381Ser
XM_017000851.1:c.1855G>A	XP_016856340.1:p.Gly619Ser
XM_017000852.1:c.2833G>A	XP_016856341.1:p.Gly945Ser
NM_201253.3:c.2698G>A MANE Select	NP_957705.1:p.Gly900Ser
NM_001193640.2:c.2362G>A	NP_001180569.1:p.Gly788Ser
NM_001257965.2:c.2626G>A	NP_001244894.1:p.Gly876Ser
NR_047563.2:n.2651G>A
NR_047564.2:n.2859G>A
NM_001257966.2:c.2129-6130G>A	NP_001244895.1:n.2129-6130G>A