Canonical Allele Identifier: CA1312198

Gene: CRB1

Linked Data

• ClinVar Variation Id: 374692
• ClinVar RCV Id: RCV000415891 ; RCV001270085 ; RCV001563885 ; RCV001242512 ; RCV001828390 ; RCV001563884 ; RCV002521478
• dbSNP Id: rs140648074
• ExAC: 1:197398648 C / T
• gnomAD v2: 1-197398648-C-T
• gnomAD v3: 1-197429518-C-T
• gnomAD v4: 1-197429518-C-T
• MyVariant Identifiers: chr1:g.197398648C>T (hg19) ; chr1:g.197429518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197429518C>T , CM000663.2:g.197429518C>T	GRCh38
NC_000001.10:g.197398648C>T , CM000663.1:g.197398648C>T	GRCh37
NC_000001.9:g.195665271C>T	NCBI36
NG_008483.1:g.166241C>T
NG_008483.2:g.233057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2746C>T MANE Select	ENSP00000356370.3:p.Leu916Phe
ENST00000638467.1:c.2746C>T	ENSP00000491102.1:p.Leu916Phe
ENST00000681519.1:c.1627C>T	ENSP00000505267.1:p.Leu543Phe
ENST00000367397.1:c.889C>T	ENSP00000356367.1:p.Leu297Phe
ENST00000367399.6:c.2410C>T	ENSP00000356369.2:p.Leu804Phe
ENST00000367400.7:c.2746C>T	ENSP00000356370.3:p.Leu916Phe
ENST00000484075.5:c.2746C>T	ENSP00000433932.1:p.Leu916Phe
ENST00000535699.5:c.2674C>T	ENSP00000438786.1:p.Leu892Phe
ENST00000538660.5:c.2129-6082C>T	ENSP00000438091.1:n.2129-6082C>T
NM_001193640.1:c.2410C>T	NP_001180569.1:p.Leu804Phe
NM_001257965.1:c.2674C>T	NP_001244894.1:p.Leu892Phe
NM_001257966.1:c.2129-6082C>T	NP_001244895.1:n.2129-6082C>T
NM_201253.2:c.2746C>T	NP_957705.1:p.Leu916Phe
NR_047563.1:n.2747C>T
NR_047564.1:n.2955C>T
XM_011509365.1:c.2746C>T	XP_011507667.1:p.Leu916Phe
XM_011509366.1:c.2746C>T	XP_011507668.1:p.Leu916Phe
XM_011509367.1:c.2746C>T	XP_011507669.1:p.Leu916Phe
XM_011509368.1:c.2164C>T	XP_011507670.1:p.Leu722Phe
XM_011509369.1:c.1189C>T	XP_011507671.1:p.Leu397Phe
XM_011509365.2:c.2746C>T	XP_011507667.1:p.Leu916Phe
XM_011509369.2:c.1189C>T	XP_011507671.1:p.Leu397Phe
XM_017000851.1:c.1903C>T	XP_016856340.1:p.Leu635Phe
XM_017000852.1:c.2881C>T	XP_016856341.1:p.Leu961Phe
NM_201253.3:c.2746C>T MANE Select	NP_957705.1:p.Leu916Phe
NM_001193640.2:c.2410C>T	NP_001180569.1:p.Leu804Phe
NM_001257965.2:c.2674C>T	NP_001244894.1:p.Leu892Phe
NR_047563.2:n.2699C>T
NR_047564.2:n.2907C>T
NM_001257966.2:c.2129-6082C>T	NP_001244895.1:n.2129-6082C>T