Canonical Allele Identifier: CA344044320

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197403979C>T (hg19) ; chr1:g.197434849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434849C>T , CM000663.2:g.197434849C>T	GRCh38
NC_000001.10:g.197403979C>T , CM000663.1:g.197403979C>T	GRCh37
NC_000001.9:g.195670602C>T	NCBI36
NG_008483.1:g.171572C>T
NG_008483.2:g.238388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2986C>T MANE Select	ENSP00000356370.3:p.Pro996Ser
ENST00000638467.1:c.2986C>T	ENSP00000491102.1:p.Pro996Ser
ENST00000681519.1:c.1867C>T	ENSP00000505267.1:p.Pro623Ser
ENST00000367397.1:c.1129C>T	ENSP00000356367.1:p.Pro377Ser
ENST00000367399.6:c.2650C>T	ENSP00000356369.2:p.Pro884Ser
ENST00000367400.7:c.2986C>T	ENSP00000356370.3:p.Pro996Ser
ENST00000484075.5:c.2986C>T	ENSP00000433932.1:p.Pro996Ser
ENST00000535699.5:c.2914C>T	ENSP00000438786.1:p.Pro972Ser
ENST00000538660.5:c.2129-751C>T	ENSP00000438091.1:n.2129-751C>T
NM_001193640.1:c.2650C>T	NP_001180569.1:p.Pro884Ser
NM_001257965.1:c.2914C>T	NP_001244894.1:p.Pro972Ser
NM_001257966.1:c.2129-751C>T	NP_001244895.1:n.2129-751C>T
NM_201253.2:c.2986C>T	NP_957705.1:p.Pro996Ser
NR_047563.1:n.2987C>T
NR_047564.1:n.3195C>T
XM_011509365.1:c.2986C>T	XP_011507667.1:p.Pro996Ser
XM_011509366.1:c.2986C>T	XP_011507668.1:p.Pro996Ser
XM_011509367.1:c.2986C>T	XP_011507669.1:p.Pro996Ser
XM_011509368.1:c.2404C>T	XP_011507670.1:p.Pro802Ser
XM_011509369.1:c.1429C>T	XP_011507671.1:p.Pro477Ser
XM_011509365.2:c.2986C>T	XP_011507667.1:p.Pro996Ser
XM_011509369.2:c.1429C>T	XP_011507671.1:p.Pro477Ser
XM_017000851.1:c.2143C>T	XP_016856340.1:p.Pro715Ser
XM_017000852.1:c.3121C>T	XP_016856341.1:p.Pro1041Ser
NM_201253.3:c.2986C>T MANE Select	NP_957705.1:p.Pro996Ser
NM_001193640.2:c.2650C>T	NP_001180569.1:p.Pro884Ser
NM_001257965.2:c.2914C>T	NP_001244894.1:p.Pro972Ser
NR_047563.2:n.2939C>T
NR_047564.2:n.3147C>T
NM_001257966.2:c.2129-751C>T	NP_001244895.1:n.2129-751C>T