Canonical Allele Identifier: CA344032694

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390781T>C (hg19) ; chr1:g.197421651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421651T>C , CM000663.2:g.197421651T>C	GRCh38
NC_000001.10:g.197390781T>C , CM000663.1:g.197390781T>C	GRCh37
NC_000001.9:g.195657404T>C	NCBI36
NG_008483.1:g.158374T>C
NG_008483.2:g.225190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1823T>C MANE Select	ENSP00000356370.3:p.Phe608Ser
ENST00000638467.1:c.1823T>C	ENSP00000491102.1:p.Phe608Ser
ENST00000681519.1:c.704T>C	ENSP00000505267.1:p.Phe235Ser
ENST00000367397.1:c.-35T>C	ENSP00000356367.1:n.-35T>C
ENST00000367399.6:c.1487T>C	ENSP00000356369.2:p.Phe496Ser
ENST00000367400.7:c.1823T>C	ENSP00000356370.3:p.Phe608Ser
ENST00000484075.5:c.1823T>C	ENSP00000433932.1:p.Phe608Ser
ENST00000535699.5:c.1616T>C	ENSP00000438786.1:p.Phe539Ser
ENST00000538660.5:c.1823T>C	ENSP00000438091.1:p.Phe608Ser
NM_001193640.1:c.1487T>C	NP_001180569.1:p.Phe496Ser
NM_001257965.1:c.1616T>C	NP_001244894.1:p.Phe539Ser
NM_001257966.1:c.1823T>C	NP_001244895.1:p.Phe608Ser
NM_201253.2:c.1823T>C	NP_957705.1:p.Phe608Ser
NR_047563.1:n.1923-99T>C
NR_047564.1:n.2032T>C
XM_011509365.1:c.1823T>C	XP_011507667.1:p.Phe608Ser
XM_011509366.1:c.1823T>C	XP_011507668.1:p.Phe608Ser
XM_011509367.1:c.1823T>C	XP_011507669.1:p.Phe608Ser
XM_011509368.1:c.1241T>C	XP_011507670.1:p.Phe414Ser
XM_011509369.1:c.266T>C	XP_011507671.1:p.Phe89Ser
XM_011509365.2:c.1823T>C	XP_011507667.1:p.Phe608Ser
XM_011509369.2:c.266T>C	XP_011507671.1:p.Phe89Ser
XM_017000851.1:c.980T>C	XP_016856340.1:p.Phe327Ser
XM_017000852.1:c.1823T>C	XP_016856341.1:p.Phe608Ser
NM_201253.3:c.1823T>C MANE Select	NP_957705.1:p.Phe608Ser
NM_001193640.2:c.1487T>C	NP_001180569.1:p.Phe496Ser
NM_001257965.2:c.1616T>C	NP_001244894.1:p.Phe539Ser
NR_047563.2:n.1875-99T>C
NR_047564.2:n.1984T>C
NM_001257966.2:c.1823T>C	NP_001244895.1:p.Phe608Ser