Canonical Allele Identifier: CA422808454

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390392C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421262C>A , CM000663.2:g.197421262C>A	GRCh38
NC_000001.10:g.197390392C>A , CM000663.1:g.197390392C>A	GRCh37
NC_000001.9:g.195657015C>A	NCBI36
NG_008483.1:g.157985C>A
NG_008483.2:g.224801C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1434C>A MANE Select	ENSP00000356370.3:p.Ser478=
ENST00000638467.1:c.1434C>A	ENSP00000491102.1:p.Ser478=
ENST00000681519.1:c.315C>A	ENSP00000505267.1:p.Ser105=
ENST00000367397.1:c.-424C>A	ENSP00000356367.1:n.-424C>A
ENST00000367399.6:c.1098C>A	ENSP00000356369.2:p.Ser366=
ENST00000367400.7:c.1434C>A	ENSP00000356370.3:p.Ser478=
ENST00000476483.1:n.394C>A
ENST00000484075.5:c.1434C>A	ENSP00000433932.1:p.Ser478=
ENST00000535699.5:c.1227C>A	ENSP00000438786.1:p.Ser409=
ENST00000538660.5:c.1434C>A	ENSP00000438091.1:p.Ser478=
NM_001193640.1:c.1098C>A	NP_001180569.1:p.Ser366=
NM_001257965.1:c.1227C>A	NP_001244894.1:p.Ser409=
NM_001257966.1:c.1434C>A	NP_001244895.1:p.Ser478=
NM_201253.2:c.1434C>A	NP_957705.1:p.Ser478=
NR_047563.1:n.1643C>A
NR_047564.1:n.1643C>A
XM_011509365.1:c.1434C>A	XP_011507667.1:p.Ser478=
XM_011509366.1:c.1434C>A	XP_011507668.1:p.Ser478=
XM_011509367.1:c.1434C>A	XP_011507669.1:p.Ser478=
XM_011509368.1:c.852C>A	XP_011507670.1:p.Ser284=
XM_011509369.1:c.-124C>A	XP_011507671.1:n.-124C>A
XM_011509365.2:c.1434C>A	XP_011507667.1:p.Ser478=
XM_011509369.2:c.-124C>A	XP_011507671.1:n.-124C>A
XM_017000851.1:c.591C>A	XP_016856340.1:p.Ser197=
XM_017000852.1:c.1434C>A	XP_016856341.1:p.Ser478=
NM_201253.3:c.1434C>A MANE Select	NP_957705.1:p.Ser478=
NM_001193640.2:c.1098C>A	NP_001180569.1:p.Ser366=
NM_001257965.2:c.1227C>A	NP_001244894.1:p.Ser409=
NR_047563.2:n.1595C>A
NR_047564.2:n.1595C>A
NM_001257966.2:c.1434C>A	NP_001244895.1:p.Ser478=