Canonical Allele Identifier: CA344037126

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197396850A>T (hg19) ; chr1:g.197427720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427720A>T , CM000663.2:g.197427720A>T	GRCh38
NC_000001.10:g.197396850A>T , CM000663.1:g.197396850A>T	GRCh37
NC_000001.9:g.195663473A>T	NCBI36
NG_008483.1:g.164443A>T
NG_008483.2:g.231259A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2395A>T MANE Select	ENSP00000356370.3:p.Lys799Ter
ENST00000638467.1:c.2395A>T	ENSP00000491102.1:p.Lys799Ter
ENST00000681519.1:c.1276A>T	ENSP00000505267.1:p.Lys426Ter
ENST00000367397.1:c.538A>T	ENSP00000356367.1:p.Lys180Ter
ENST00000367399.6:c.2059A>T	ENSP00000356369.2:p.Lys687Ter
ENST00000367400.7:c.2395A>T	ENSP00000356370.3:p.Lys799Ter
ENST00000480086.2:n.296A>T
ENST00000484075.5:c.2395A>T	ENSP00000433932.1:p.Lys799Ter
ENST00000535699.5:c.2188A>T	ENSP00000438786.1:p.Lys730Ter
ENST00000538660.5:c.2128+5764A>T	ENSP00000438091.1:n.2128+5764A>T
NM_001193640.1:c.2059A>T	NP_001180569.1:p.Lys687Ter
NM_001257965.1:c.2188A>T	NP_001244894.1:p.Lys730Ter
NM_001257966.1:c.2128+5764A>T	NP_001244895.1:n.2128+5764A>T
NM_201253.2:c.2395A>T	NP_957705.1:p.Lys799Ter
NR_047563.1:n.2396A>T
NR_047564.1:n.2604A>T
XM_011509365.1:c.2395A>T	XP_011507667.1:p.Lys799Ter
XM_011509366.1:c.2395A>T	XP_011507668.1:p.Lys799Ter
XM_011509367.1:c.2395A>T	XP_011507669.1:p.Lys799Ter
XM_011509368.1:c.1813A>T	XP_011507670.1:p.Lys605Ter
XM_011509369.1:c.838A>T	XP_011507671.1:p.Lys280Ter
XM_011509365.2:c.2395A>T	XP_011507667.1:p.Lys799Ter
XM_011509369.2:c.838A>T	XP_011507671.1:p.Lys280Ter
XM_017000851.1:c.1552A>T	XP_016856340.1:p.Lys518Ter
XM_017000852.1:c.2395A>T	XP_016856341.1:p.Lys799Ter
NM_201253.3:c.2395A>T MANE Select	NP_957705.1:p.Lys799Ter
NM_001193640.2:c.2059A>T	NP_001180569.1:p.Lys687Ter
NM_001257965.2:c.2188A>T	NP_001244894.1:p.Lys730Ter
NR_047563.2:n.2348A>T
NR_047564.2:n.2556A>T
NM_001257966.2:c.2128+5764A>T	NP_001244895.1:n.2128+5764A>T