Canonical Allele Identifier: CA344033112

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197390919C>G (hg19) ; chr1:g.197421789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421789C>G , CM000663.2:g.197421789C>G	GRCh38
NC_000001.10:g.197390919C>G , CM000663.1:g.197390919C>G	GRCh37
NC_000001.9:g.195657542C>G	NCBI36
NG_008483.1:g.158512C>G
NG_008483.2:g.225328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1961C>G MANE Select	ENSP00000356370.3:p.Thr654Ser
ENST00000638467.1:c.1961C>G	ENSP00000491102.1:p.Thr654Ser
ENST00000681519.1:c.842C>G	ENSP00000505267.1:p.Thr281Ser
ENST00000367397.1:c.104C>G	ENSP00000356367.1:p.Thr35Ser
ENST00000367399.6:c.1625C>G	ENSP00000356369.2:p.Thr542Ser
ENST00000367400.7:c.1961C>G	ENSP00000356370.3:p.Thr654Ser
ENST00000484075.5:c.1961C>G	ENSP00000433932.1:p.Thr654Ser
ENST00000535699.5:c.1754C>G	ENSP00000438786.1:p.Thr585Ser
ENST00000538660.5:c.1961C>G	ENSP00000438091.1:p.Thr654Ser
NM_001193640.1:c.1625C>G	NP_001180569.1:p.Thr542Ser
NM_001257965.1:c.1754C>G	NP_001244894.1:p.Thr585Ser
NM_001257966.1:c.1961C>G	NP_001244895.1:p.Thr654Ser
NM_201253.2:c.1961C>G	NP_957705.1:p.Thr654Ser
NR_047563.1:n.1962C>G
NR_047564.1:n.2170C>G
XM_011509365.1:c.1961C>G	XP_011507667.1:p.Thr654Ser
XM_011509366.1:c.1961C>G	XP_011507668.1:p.Thr654Ser
XM_011509367.1:c.1961C>G	XP_011507669.1:p.Thr654Ser
XM_011509368.1:c.1379C>G	XP_011507670.1:p.Thr460Ser
XM_011509369.1:c.404C>G	XP_011507671.1:p.Thr135Ser
XM_011509365.2:c.1961C>G	XP_011507667.1:p.Thr654Ser
XM_011509369.2:c.404C>G	XP_011507671.1:p.Thr135Ser
XM_017000851.1:c.1118C>G	XP_016856340.1:p.Thr373Ser
XM_017000852.1:c.1961C>G	XP_016856341.1:p.Thr654Ser
NM_201253.3:c.1961C>G MANE Select	NP_957705.1:p.Thr654Ser
NM_001193640.2:c.1625C>G	NP_001180569.1:p.Thr542Ser
NM_001257965.2:c.1754C>G	NP_001244894.1:p.Thr585Ser
NR_047563.2:n.1914C>G
NR_047564.2:n.2122C>G
NM_001257966.2:c.1961C>G	NP_001244895.1:p.Thr654Ser