Canonical Allele Identifier: CA344047079

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404319A>C (hg19) ; chr1:g.197435189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435189A>C , CM000663.2:g.197435189A>C	GRCh38
NC_000001.10:g.197404319A>C , CM000663.1:g.197404319A>C	GRCh37
NC_000001.9:g.195670942A>C	NCBI36
NG_008483.1:g.171912A>C
NG_008483.2:g.238728A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3326A>C MANE Select	ENSP00000356370.3:p.Tyr1109Ser
ENST00000638467.1:c.3326A>C	ENSP00000491102.1:p.Tyr1109Ser
ENST00000681519.1:c.2207A>C	ENSP00000505267.1:p.Tyr736Ser
ENST00000367397.1:c.1469A>C	ENSP00000356367.1:p.Tyr490Ser
ENST00000367399.6:c.2990A>C	ENSP00000356369.2:p.Tyr997Ser
ENST00000367400.7:c.3326A>C	ENSP00000356370.3:p.Tyr1109Ser
ENST00000484075.5:c.3326A>C	ENSP00000433932.1:p.Tyr1109Ser
ENST00000535699.5:c.3254A>C	ENSP00000438786.1:p.Tyr1085Ser
ENST00000538660.5:c.2129-411A>C	ENSP00000438091.1:n.2129-411A>C
NM_001193640.1:c.2990A>C	NP_001180569.1:p.Tyr997Ser
NM_001257965.1:c.3254A>C	NP_001244894.1:p.Tyr1085Ser
NM_001257966.1:c.2129-411A>C	NP_001244895.1:n.2129-411A>C
NM_201253.2:c.3326A>C	NP_957705.1:p.Tyr1109Ser
NR_047563.1:n.3327A>C
NR_047564.1:n.3535A>C
XM_011509365.1:c.3326A>C	XP_011507667.1:p.Tyr1109Ser
XM_011509366.1:c.3326A>C	XP_011507668.1:p.Tyr1109Ser
XM_011509367.1:c.3326A>C	XP_011507669.1:p.Tyr1109Ser
XM_011509368.1:c.2744A>C	XP_011507670.1:p.Tyr915Ser
XM_011509369.1:c.1769A>C	XP_011507671.1:p.Tyr590Ser
XM_011509365.2:c.3326A>C	XP_011507667.1:p.Tyr1109Ser
XM_011509369.2:c.1769A>C	XP_011507671.1:p.Tyr590Ser
XM_017000851.1:c.2483A>C	XP_016856340.1:p.Tyr828Ser
XM_017000852.1:c.3461A>C	XP_016856341.1:p.Tyr1154Ser
NM_201253.3:c.3326A>C MANE Select	NP_957705.1:p.Tyr1109Ser
NM_001193640.2:c.2990A>C	NP_001180569.1:p.Tyr997Ser
NM_001257965.2:c.3254A>C	NP_001244894.1:p.Tyr1085Ser
NR_047563.2:n.3279A>C
NR_047564.2:n.3487A>C
NM_001257966.2:c.2129-411A>C	NP_001244895.1:n.2129-411A>C