Canonical Allele Identifier: CA344033101

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390917T>G (hg19) ; chr1:g.197421787T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421787T>G , CM000663.2:g.197421787T>G	GRCh38
NC_000001.10:g.197390917T>G , CM000663.1:g.197390917T>G	GRCh37
NC_000001.9:g.195657540T>G	NCBI36
NG_008483.1:g.158510T>G
NG_008483.2:g.225326T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1959T>G MANE Select	ENSP00000356370.3:p.Ile653Met
ENST00000638467.1:c.1959T>G	ENSP00000491102.1:p.Ile653Met
ENST00000681519.1:c.840T>G	ENSP00000505267.1:p.Ile280Met
ENST00000367397.1:c.102T>G	ENSP00000356367.1:p.Ile34Met
ENST00000367399.6:c.1623T>G	ENSP00000356369.2:p.Ile541Met
ENST00000367400.7:c.1959T>G	ENSP00000356370.3:p.Ile653Met
ENST00000484075.5:c.1959T>G	ENSP00000433932.1:p.Ile653Met
ENST00000535699.5:c.1752T>G	ENSP00000438786.1:p.Ile584Met
ENST00000538660.5:c.1959T>G	ENSP00000438091.1:p.Ile653Met
NM_001193640.1:c.1623T>G	NP_001180569.1:p.Ile541Met
NM_001257965.1:c.1752T>G	NP_001244894.1:p.Ile584Met
NM_001257966.1:c.1959T>G	NP_001244895.1:p.Ile653Met
NM_201253.2:c.1959T>G	NP_957705.1:p.Ile653Met
NR_047563.1:n.1960T>G
NR_047564.1:n.2168T>G
XM_011509365.1:c.1959T>G	XP_011507667.1:p.Ile653Met
XM_011509366.1:c.1959T>G	XP_011507668.1:p.Ile653Met
XM_011509367.1:c.1959T>G	XP_011507669.1:p.Ile653Met
XM_011509368.1:c.1377T>G	XP_011507670.1:p.Ile459Met
XM_011509369.1:c.402T>G	XP_011507671.1:p.Ile134Met
XM_011509365.2:c.1959T>G	XP_011507667.1:p.Ile653Met
XM_011509369.2:c.402T>G	XP_011507671.1:p.Ile134Met
XM_017000851.1:c.1116T>G	XP_016856340.1:p.Ile372Met
XM_017000852.1:c.1959T>G	XP_016856341.1:p.Ile653Met
NM_201253.3:c.1959T>G MANE Select	NP_957705.1:p.Ile653Met
NM_001193640.2:c.1623T>G	NP_001180569.1:p.Ile541Met
NM_001257965.2:c.1752T>G	NP_001244894.1:p.Ile584Met
NR_047563.2:n.1912T>G
NR_047564.2:n.2120T>G
NM_001257966.2:c.1959T>G	NP_001244895.1:p.Ile653Met