Canonical Allele Identifier: CA344044791

Gene: CRB1

Linked Data

• MyVariant Identifiers: chr1:g.197404029G>C (hg19) ; chr1:g.197434899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434899G>C , CM000663.2:g.197434899G>C	GRCh38
NC_000001.10:g.197404029G>C , CM000663.1:g.197404029G>C	GRCh37
NC_000001.9:g.195670652G>C	NCBI36
NG_008483.1:g.171622G>C
NG_008483.2:g.238438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3036G>C MANE Select	ENSP00000356370.3:p.Leu1012Phe
ENST00000638467.1:c.3036G>C	ENSP00000491102.1:p.Leu1012Phe
ENST00000681519.1:c.1917G>C	ENSP00000505267.1:p.Leu639Phe
ENST00000367397.1:c.1179G>C	ENSP00000356367.1:p.Leu393Phe
ENST00000367399.6:c.2700G>C	ENSP00000356369.2:p.Leu900Phe
ENST00000367400.7:c.3036G>C	ENSP00000356370.3:p.Leu1012Phe
ENST00000484075.5:c.3036G>C	ENSP00000433932.1:p.Leu1012Phe
ENST00000535699.5:c.2964G>C	ENSP00000438786.1:p.Leu988Phe
ENST00000538660.5:c.2129-701G>C	ENSP00000438091.1:n.2129-701G>C
NM_001193640.1:c.2700G>C	NP_001180569.1:p.Leu900Phe
NM_001257965.1:c.2964G>C	NP_001244894.1:p.Leu988Phe
NM_001257966.1:c.2129-701G>C	NP_001244895.1:n.2129-701G>C
NM_201253.2:c.3036G>C	NP_957705.1:p.Leu1012Phe
NR_047563.1:n.3037G>C
NR_047564.1:n.3245G>C
XM_011509365.1:c.3036G>C	XP_011507667.1:p.Leu1012Phe
XM_011509366.1:c.3036G>C	XP_011507668.1:p.Leu1012Phe
XM_011509367.1:c.3036G>C	XP_011507669.1:p.Leu1012Phe
XM_011509368.1:c.2454G>C	XP_011507670.1:p.Leu818Phe
XM_011509369.1:c.1479G>C	XP_011507671.1:p.Leu493Phe
XM_011509365.2:c.3036G>C	XP_011507667.1:p.Leu1012Phe
XM_011509369.2:c.1479G>C	XP_011507671.1:p.Leu493Phe
XM_017000851.1:c.2193G>C	XP_016856340.1:p.Leu731Phe
XM_017000852.1:c.3171G>C	XP_016856341.1:p.Leu1057Phe
NM_201253.3:c.3036G>C MANE Select	NP_957705.1:p.Leu1012Phe
NM_001193640.2:c.2700G>C	NP_001180569.1:p.Leu900Phe
NM_001257965.2:c.2964G>C	NP_001244894.1:p.Leu988Phe
NR_047563.2:n.2989G>C
NR_047564.2:n.3197G>C
NM_001257966.2:c.2129-701G>C	NP_001244895.1:n.2129-701G>C