Canonical Allele Identifier: CA344032878

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390865C>T (hg19) ; chr1:g.197421735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421735C>T , CM000663.2:g.197421735C>T	GRCh38
NC_000001.10:g.197390865C>T , CM000663.1:g.197390865C>T	GRCh37
NC_000001.9:g.195657488C>T	NCBI36
NG_008483.1:g.158458C>T
NG_008483.2:g.225274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1907C>T MANE Select	ENSP00000356370.3:p.Thr636Ile
ENST00000638467.1:c.1907C>T	ENSP00000491102.1:p.Thr636Ile
ENST00000681519.1:c.788C>T	ENSP00000505267.1:p.Thr263Ile
ENST00000367397.1:c.50C>T	ENSP00000356367.1:p.Thr17Ile
ENST00000367399.6:c.1571C>T	ENSP00000356369.2:p.Thr524Ile
ENST00000367400.7:c.1907C>T	ENSP00000356370.3:p.Thr636Ile
ENST00000484075.5:c.1907C>T	ENSP00000433932.1:p.Thr636Ile
ENST00000535699.5:c.1700C>T	ENSP00000438786.1:p.Thr567Ile
ENST00000538660.5:c.1907C>T	ENSP00000438091.1:p.Thr636Ile
NM_001193640.1:c.1571C>T	NP_001180569.1:p.Thr524Ile
NM_001257965.1:c.1700C>T	NP_001244894.1:p.Thr567Ile
NM_001257966.1:c.1907C>T	NP_001244895.1:p.Thr636Ile
NM_201253.2:c.1907C>T	NP_957705.1:p.Thr636Ile
NR_047563.1:n.1923-15C>T
NR_047564.1:n.2116C>T
XM_011509365.1:c.1907C>T	XP_011507667.1:p.Thr636Ile
XM_011509366.1:c.1907C>T	XP_011507668.1:p.Thr636Ile
XM_011509367.1:c.1907C>T	XP_011507669.1:p.Thr636Ile
XM_011509368.1:c.1325C>T	XP_011507670.1:p.Thr442Ile
XM_011509369.1:c.350C>T	XP_011507671.1:p.Thr117Ile
XM_011509365.2:c.1907C>T	XP_011507667.1:p.Thr636Ile
XM_011509369.2:c.350C>T	XP_011507671.1:p.Thr117Ile
XM_017000851.1:c.1064C>T	XP_016856340.1:p.Thr355Ile
XM_017000852.1:c.1907C>T	XP_016856341.1:p.Thr636Ile
NM_201253.3:c.1907C>T MANE Select	NP_957705.1:p.Thr636Ile
NM_001193640.2:c.1571C>T	NP_001180569.1:p.Thr524Ile
NM_001257965.2:c.1700C>T	NP_001244894.1:p.Thr567Ile
NR_047563.2:n.1875-15C>T
NR_047564.2:n.2068C>T
NM_001257966.2:c.1907C>T	NP_001244895.1:p.Thr636Ile