Canonical Allele Identifier: CA344037851

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427829-T-C
• MyVariant Identifiers: chr1:g.197396959T>C (hg19) ; chr1:g.197427829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427829T>C , CM000663.2:g.197427829T>C	GRCh38
NC_000001.10:g.197396959T>C , CM000663.1:g.197396959T>C	GRCh37
NC_000001.9:g.195663582T>C	NCBI36
NG_008483.1:g.164552T>C
NG_008483.2:g.231368T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2504T>C MANE Select	ENSP00000356370.3:p.Leu835Pro
ENST00000638467.1:c.2504T>C	ENSP00000491102.1:p.Leu835Pro
ENST00000681519.1:c.1385T>C	ENSP00000505267.1:p.Leu462Pro
ENST00000367397.1:c.647T>C	ENSP00000356367.1:p.Leu216Pro
ENST00000367399.6:c.2168T>C	ENSP00000356369.2:p.Leu723Pro
ENST00000367400.7:c.2504T>C	ENSP00000356370.3:p.Leu835Pro
ENST00000480086.2:n.405T>C
ENST00000484075.5:c.2504T>C	ENSP00000433932.1:p.Leu835Pro
ENST00000535699.5:c.2297T>C	ENSP00000438786.1:p.Leu766Pro
ENST00000538660.5:c.2128+5873T>C	ENSP00000438091.1:n.2128+5873T>C
NM_001193640.1:c.2168T>C	NP_001180569.1:p.Leu723Pro
NM_001257965.1:c.2297T>C	NP_001244894.1:p.Leu766Pro
NM_001257966.1:c.2128+5873T>C	NP_001244895.1:n.2128+5873T>C
NM_201253.2:c.2504T>C	NP_957705.1:p.Leu835Pro
NR_047563.1:n.2505T>C
NR_047564.1:n.2713T>C
XM_011509365.1:c.2504T>C	XP_011507667.1:p.Leu835Pro
XM_011509366.1:c.2504T>C	XP_011507668.1:p.Leu835Pro
XM_011509367.1:c.2504T>C	XP_011507669.1:p.Leu835Pro
XM_011509368.1:c.1922T>C	XP_011507670.1:p.Leu641Pro
XM_011509369.1:c.947T>C	XP_011507671.1:p.Leu316Pro
XM_011509365.2:c.2504T>C	XP_011507667.1:p.Leu835Pro
XM_011509369.2:c.947T>C	XP_011507671.1:p.Leu316Pro
XM_017000851.1:c.1661T>C	XP_016856340.1:p.Leu554Pro
XM_017000852.1:c.2504T>C	XP_016856341.1:p.Leu835Pro
NM_201253.3:c.2504T>C MANE Select	NP_957705.1:p.Leu835Pro
NM_001193640.2:c.2168T>C	NP_001180569.1:p.Leu723Pro
NM_001257965.2:c.2297T>C	NP_001244894.1:p.Leu766Pro
NR_047563.2:n.2457T>C
NR_047564.2:n.2665T>C
NM_001257966.2:c.2128+5873T>C	NP_001244895.1:n.2128+5873T>C