Canonical Allele Identifier: CA344044500

Gene: CRB1

Linked Data

• gnomAD v4: 1-197434873-C-T
• MyVariant Identifiers: chr1:g.197404003C>T (hg19) ; chr1:g.197434873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434873C>T , CM000663.2:g.197434873C>T	GRCh38
NC_000001.10:g.197404003C>T , CM000663.1:g.197404003C>T	GRCh37
NC_000001.9:g.195670626C>T	NCBI36
NG_008483.1:g.171596C>T
NG_008483.2:g.238412C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3010C>T MANE Select	ENSP00000356370.3:p.Gln1004Ter
ENST00000638467.1:c.3010C>T	ENSP00000491102.1:p.Gln1004Ter
ENST00000681519.1:c.1891C>T	ENSP00000505267.1:p.Gln631Ter
ENST00000367397.1:c.1153C>T	ENSP00000356367.1:p.Gln385Ter
ENST00000367399.6:c.2674C>T	ENSP00000356369.2:p.Gln892Ter
ENST00000367400.7:c.3010C>T	ENSP00000356370.3:p.Gln1004Ter
ENST00000484075.5:c.3010C>T	ENSP00000433932.1:p.Gln1004Ter
ENST00000535699.5:c.2938C>T	ENSP00000438786.1:p.Gln980Ter
ENST00000538660.5:c.2129-727C>T	ENSP00000438091.1:n.2129-727C>T
NM_001193640.1:c.2674C>T	NP_001180569.1:p.Gln892Ter
NM_001257965.1:c.2938C>T	NP_001244894.1:p.Gln980Ter
NM_001257966.1:c.2129-727C>T	NP_001244895.1:n.2129-727C>T
NM_201253.2:c.3010C>T	NP_957705.1:p.Gln1004Ter
NR_047563.1:n.3011C>T
NR_047564.1:n.3219C>T
XM_011509365.1:c.3010C>T	XP_011507667.1:p.Gln1004Ter
XM_011509366.1:c.3010C>T	XP_011507668.1:p.Gln1004Ter
XM_011509367.1:c.3010C>T	XP_011507669.1:p.Gln1004Ter
XM_011509368.1:c.2428C>T	XP_011507670.1:p.Gln810Ter
XM_011509369.1:c.1453C>T	XP_011507671.1:p.Gln485Ter
XM_011509365.2:c.3010C>T	XP_011507667.1:p.Gln1004Ter
XM_011509369.2:c.1453C>T	XP_011507671.1:p.Gln485Ter
XM_017000851.1:c.2167C>T	XP_016856340.1:p.Gln723Ter
XM_017000852.1:c.3145C>T	XP_016856341.1:p.Gln1049Ter
NM_201253.3:c.3010C>T MANE Select	NP_957705.1:p.Gln1004Ter
NM_001193640.2:c.2674C>T	NP_001180569.1:p.Gln892Ter
NM_001257965.2:c.2938C>T	NP_001244894.1:p.Gln980Ter
NR_047563.2:n.2963C>T
NR_047564.2:n.3171C>T
NM_001257966.2:c.2129-727C>T	NP_001244895.1:n.2129-727C>T