Canonical Allele Identifier: CA422672513

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1086337
• ClinVar RCV Id: RCV001404039
• dbSNP Id: rs2125498741
• MyVariant Identifiers: chr1:g.197403858T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434728T>C , CM000663.2:g.197434728T>C	GRCh38
NC_000001.10:g.197403858T>C , CM000663.1:g.197403858T>C	GRCh37
NC_000001.9:g.195670481T>C	NCBI36
NG_008483.1:g.171451T>C
NG_008483.2:g.238267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2865T>C MANE Select	ENSP00000356370.3:p.Asn955=
ENST00000638467.1:c.2865T>C	ENSP00000491102.1:p.Asn955=
ENST00000681519.1:c.1746T>C	ENSP00000505267.1:p.Asn582=
ENST00000367397.1:c.1008T>C	ENSP00000356367.1:p.Asn336=
ENST00000367399.6:c.2529T>C	ENSP00000356369.2:p.Asn843=
ENST00000367400.7:c.2865T>C	ENSP00000356370.3:p.Asn955=
ENST00000484075.5:c.2865T>C	ENSP00000433932.1:p.Asn955=
ENST00000535699.5:c.2793T>C	ENSP00000438786.1:p.Asn931=
ENST00000538660.5:c.2129-872T>C	ENSP00000438091.1:n.2129-872T>C
NM_001193640.1:c.2529T>C	NP_001180569.1:p.Asn843=
NM_001257965.1:c.2793T>C	NP_001244894.1:p.Asn931=
NM_001257966.1:c.2129-872T>C	NP_001244895.1:n.2129-872T>C
NM_201253.2:c.2865T>C	NP_957705.1:p.Asn955=
NR_047563.1:n.2866T>C
NR_047564.1:n.3074T>C
XM_011509365.1:c.2865T>C	XP_011507667.1:p.Asn955=
XM_011509366.1:c.2865T>C	XP_011507668.1:p.Asn955=
XM_011509367.1:c.2865T>C	XP_011507669.1:p.Asn955=
XM_011509368.1:c.2283T>C	XP_011507670.1:p.Asn761=
XM_011509369.1:c.1308T>C	XP_011507671.1:p.Asn436=
XM_011509365.2:c.2865T>C	XP_011507667.1:p.Asn955=
XM_011509369.2:c.1308T>C	XP_011507671.1:p.Asn436=
XM_017000851.1:c.2022T>C	XP_016856340.1:p.Asn674=
XM_017000852.1:c.3000T>C	XP_016856341.1:p.Asn1000=
NM_201253.3:c.2865T>C MANE Select	NP_957705.1:p.Asn955=
NM_001193640.2:c.2529T>C	NP_001180569.1:p.Asn843=
NM_001257965.2:c.2793T>C	NP_001244894.1:p.Asn931=
NR_047563.2:n.2818T>C
NR_047564.2:n.3026T>C
NM_001257966.2:c.2129-872T>C	NP_001244895.1:n.2129-872T>C