Canonical Allele Identifier: CA344046786

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404232T>G (hg19) ; chr1:g.197435102T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435102T>G , CM000663.2:g.197435102T>G	GRCh38
NC_000001.10:g.197404232T>G , CM000663.1:g.197404232T>G	GRCh37
NC_000001.9:g.195670855T>G	NCBI36
NG_008483.1:g.171825T>G
NG_008483.2:g.238641T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3239T>G MANE Select	ENSP00000356370.3:p.Ile1080Ser
ENST00000638467.1:c.3239T>G	ENSP00000491102.1:p.Ile1080Ser
ENST00000681519.1:c.2120T>G	ENSP00000505267.1:p.Ile707Ser
ENST00000367397.1:c.1382T>G	ENSP00000356367.1:p.Ile461Ser
ENST00000367399.6:c.2903T>G	ENSP00000356369.2:p.Ile968Ser
ENST00000367400.7:c.3239T>G	ENSP00000356370.3:p.Ile1080Ser
ENST00000484075.5:c.3239T>G	ENSP00000433932.1:p.Ile1080Ser
ENST00000535699.5:c.3167T>G	ENSP00000438786.1:p.Ile1056Ser
ENST00000538660.5:c.2129-498T>G	ENSP00000438091.1:n.2129-498T>G
NM_001193640.1:c.2903T>G	NP_001180569.1:p.Ile968Ser
NM_001257965.1:c.3167T>G	NP_001244894.1:p.Ile1056Ser
NM_001257966.1:c.2129-498T>G	NP_001244895.1:n.2129-498T>G
NM_201253.2:c.3239T>G	NP_957705.1:p.Ile1080Ser
NR_047563.1:n.3240T>G
NR_047564.1:n.3448T>G
XM_011509365.1:c.3239T>G	XP_011507667.1:p.Ile1080Ser
XM_011509366.1:c.3239T>G	XP_011507668.1:p.Ile1080Ser
XM_011509367.1:c.3239T>G	XP_011507669.1:p.Ile1080Ser
XM_011509368.1:c.2657T>G	XP_011507670.1:p.Ile886Ser
XM_011509369.1:c.1682T>G	XP_011507671.1:p.Ile561Ser
XM_011509365.2:c.3239T>G	XP_011507667.1:p.Ile1080Ser
XM_011509369.2:c.1682T>G	XP_011507671.1:p.Ile561Ser
XM_017000851.1:c.2396T>G	XP_016856340.1:p.Ile799Ser
XM_017000852.1:c.3374T>G	XP_016856341.1:p.Ile1125Ser
NM_201253.3:c.3239T>G MANE Select	NP_957705.1:p.Ile1080Ser
NM_001193640.2:c.2903T>G	NP_001180569.1:p.Ile968Ser
NM_001257965.2:c.3167T>G	NP_001244894.1:p.Ile1056Ser
NR_047563.2:n.3192T>G
NR_047564.2:n.3400T>G
NM_001257966.2:c.2129-498T>G	NP_001244895.1:n.2129-498T>G