Canonical Allele Identifier: CA344046456

Gene: CRB1

Linked Data

• gnomAD v4: 1-197435042-C-A
• MyVariant Identifiers: chr1:g.197404172C>A (hg19) ; chr1:g.197435042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435042C>A , CM000663.2:g.197435042C>A	GRCh38
NC_000001.10:g.197404172C>A , CM000663.1:g.197404172C>A	GRCh37
NC_000001.9:g.195670795C>A	NCBI36
NG_008483.1:g.171765C>A
NG_008483.2:g.238581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3179C>A MANE Select	ENSP00000356370.3:p.Pro1060His
ENST00000638467.1:c.3179C>A	ENSP00000491102.1:p.Pro1060His
ENST00000681519.1:c.2060C>A	ENSP00000505267.1:p.Pro687His
ENST00000367397.1:c.1322C>A	ENSP00000356367.1:p.Pro441His
ENST00000367399.6:c.2843C>A	ENSP00000356369.2:p.Pro948His
ENST00000367400.7:c.3179C>A	ENSP00000356370.3:p.Pro1060His
ENST00000484075.5:c.3179C>A	ENSP00000433932.1:p.Pro1060His
ENST00000535699.5:c.3107C>A	ENSP00000438786.1:p.Pro1036His
ENST00000538660.5:c.2129-558C>A	ENSP00000438091.1:n.2129-558C>A
NM_001193640.1:c.2843C>A	NP_001180569.1:p.Pro948His
NM_001257965.1:c.3107C>A	NP_001244894.1:p.Pro1036His
NM_001257966.1:c.2129-558C>A	NP_001244895.1:n.2129-558C>A
NM_201253.2:c.3179C>A	NP_957705.1:p.Pro1060His
NR_047563.1:n.3180C>A
NR_047564.1:n.3388C>A
XM_011509365.1:c.3179C>A	XP_011507667.1:p.Pro1060His
XM_011509366.1:c.3179C>A	XP_011507668.1:p.Pro1060His
XM_011509367.1:c.3179C>A	XP_011507669.1:p.Pro1060His
XM_011509368.1:c.2597C>A	XP_011507670.1:p.Pro866His
XM_011509369.1:c.1622C>A	XP_011507671.1:p.Pro541His
XM_011509365.2:c.3179C>A	XP_011507667.1:p.Pro1060His
XM_011509369.2:c.1622C>A	XP_011507671.1:p.Pro541His
XM_017000851.1:c.2336C>A	XP_016856340.1:p.Pro779His
XM_017000852.1:c.3314C>A	XP_016856341.1:p.Pro1105His
NM_201253.3:c.3179C>A MANE Select	NP_957705.1:p.Pro1060His
NM_001193640.2:c.2843C>A	NP_001180569.1:p.Pro948His
NM_001257965.2:c.3107C>A	NP_001244894.1:p.Pro1036His
NR_047563.2:n.3132C>A
NR_047564.2:n.3340C>A
NM_001257966.2:c.2129-558C>A	NP_001244895.1:n.2129-558C>A