Canonical Allele Identifier: CA344044414

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403995T>C (hg19) ; chr1:g.197434865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434865T>C , CM000663.2:g.197434865T>C	GRCh38
NC_000001.10:g.197403995T>C , CM000663.1:g.197403995T>C	GRCh37
NC_000001.9:g.195670618T>C	NCBI36
NG_008483.1:g.171588T>C
NG_008483.2:g.238404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3002T>C MANE Select	ENSP00000356370.3:p.Ile1001Thr
ENST00000638467.1:c.3002T>C	ENSP00000491102.1:p.Ile1001Thr
ENST00000681519.1:c.1883T>C	ENSP00000505267.1:p.Ile628Thr
ENST00000367397.1:c.1145T>C	ENSP00000356367.1:p.Ile382Thr
ENST00000367399.6:c.2666T>C	ENSP00000356369.2:p.Ile889Thr
ENST00000367400.7:c.3002T>C	ENSP00000356370.3:p.Ile1001Thr
ENST00000484075.5:c.3002T>C	ENSP00000433932.1:p.Ile1001Thr
ENST00000535699.5:c.2930T>C	ENSP00000438786.1:p.Ile977Thr
ENST00000538660.5:c.2129-735T>C	ENSP00000438091.1:n.2129-735T>C
NM_001193640.1:c.2666T>C	NP_001180569.1:p.Ile889Thr
NM_001257965.1:c.2930T>C	NP_001244894.1:p.Ile977Thr
NM_001257966.1:c.2129-735T>C	NP_001244895.1:n.2129-735T>C
NM_201253.2:c.3002T>C	NP_957705.1:p.Ile1001Thr
NR_047563.1:n.3003T>C
NR_047564.1:n.3211T>C
XM_011509365.1:c.3002T>C	XP_011507667.1:p.Ile1001Thr
XM_011509366.1:c.3002T>C	XP_011507668.1:p.Ile1001Thr
XM_011509367.1:c.3002T>C	XP_011507669.1:p.Ile1001Thr
XM_011509368.1:c.2420T>C	XP_011507670.1:p.Ile807Thr
XM_011509369.1:c.1445T>C	XP_011507671.1:p.Ile482Thr
XM_011509365.2:c.3002T>C	XP_011507667.1:p.Ile1001Thr
XM_011509369.2:c.1445T>C	XP_011507671.1:p.Ile482Thr
XM_017000851.1:c.2159T>C	XP_016856340.1:p.Ile720Thr
XM_017000852.1:c.3137T>C	XP_016856341.1:p.Ile1046Thr
NM_201253.3:c.3002T>C MANE Select	NP_957705.1:p.Ile1001Thr
NM_001193640.2:c.2666T>C	NP_001180569.1:p.Ile889Thr
NM_001257965.2:c.2930T>C	NP_001244894.1:p.Ile977Thr
NR_047563.2:n.2955T>C
NR_047564.2:n.3163T>C
NM_001257966.2:c.2129-735T>C	NP_001244895.1:n.2129-735T>C