Canonical Allele Identifier: CA344043230

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1957393
• ClinVar RCV Id: RCV002690589
• MyVariant Identifiers: chr1:g.197403878T>A (hg19) ; chr1:g.197434748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434748T>A , CM000663.2:g.197434748T>A	GRCh38
NC_000001.10:g.197403878T>A , CM000663.1:g.197403878T>A	GRCh37
NC_000001.9:g.195670501T>A	NCBI36
NG_008483.1:g.171471T>A
NG_008483.2:g.238287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2885T>A MANE Select	ENSP00000356370.3:p.Leu962Ter
ENST00000638467.1:c.2885T>A	ENSP00000491102.1:p.Leu962Ter
ENST00000681519.1:c.1766T>A	ENSP00000505267.1:p.Leu589Ter
ENST00000367397.1:c.1028T>A	ENSP00000356367.1:p.Leu343Ter
ENST00000367399.6:c.2549T>A	ENSP00000356369.2:p.Leu850Ter
ENST00000367400.7:c.2885T>A	ENSP00000356370.3:p.Leu962Ter
ENST00000484075.5:c.2885T>A	ENSP00000433932.1:p.Leu962Ter
ENST00000535699.5:c.2813T>A	ENSP00000438786.1:p.Leu938Ter
ENST00000538660.5:c.2129-852T>A	ENSP00000438091.1:n.2129-852T>A
NM_001193640.1:c.2549T>A	NP_001180569.1:p.Leu850Ter
NM_001257965.1:c.2813T>A	NP_001244894.1:p.Leu938Ter
NM_001257966.1:c.2129-852T>A	NP_001244895.1:n.2129-852T>A
NM_201253.2:c.2885T>A	NP_957705.1:p.Leu962Ter
NR_047563.1:n.2886T>A
NR_047564.1:n.3094T>A
XM_011509365.1:c.2885T>A	XP_011507667.1:p.Leu962Ter
XM_011509366.1:c.2885T>A	XP_011507668.1:p.Leu962Ter
XM_011509367.1:c.2885T>A	XP_011507669.1:p.Leu962Ter
XM_011509368.1:c.2303T>A	XP_011507670.1:p.Leu768Ter
XM_011509369.1:c.1328T>A	XP_011507671.1:p.Leu443Ter
XM_011509365.2:c.2885T>A	XP_011507667.1:p.Leu962Ter
XM_011509369.2:c.1328T>A	XP_011507671.1:p.Leu443Ter
XM_017000851.1:c.2042T>A	XP_016856340.1:p.Leu681Ter
XM_017000852.1:c.3020T>A	XP_016856341.1:p.Leu1007Ter
NM_201253.3:c.2885T>A MANE Select	NP_957705.1:p.Leu962Ter
NM_001193640.2:c.2549T>A	NP_001180569.1:p.Leu850Ter
NM_001257965.2:c.2813T>A	NP_001244894.1:p.Leu938Ter
NR_047563.2:n.2838T>A
NR_047564.2:n.3046T>A
NM_001257966.2:c.2129-852T>A	NP_001244895.1:n.2129-852T>A