Canonical Allele Identifier: CA344670231

Gene: FAM177B

Linked Data

• MyVariant Identifiers: chr1:g.222923365A>C (hg19) ; chr1:g.222750023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222750023A>C , CM000663.2:g.222750023A>C	GRCh38
NC_000001.10:g.222923365A>C , CM000663.1:g.222923365A>C	GRCh37
NC_000001.9:g.220989988A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000445590.4:c.442A>C MANE Select	ENSP00000414451.2:p.Ile148Leu
ENST00000360827.6:c.442A>C	ENSP00000354070.2:p.Ile148Leu
ENST00000391880.6:c.*583A>C	ENSP00000375752.2:n.*583A>C
ENST00000445590.3:c.442A>C	ENSP00000414451.2:p.Ile148Leu
NM_207468.2:c.442A>C	NP_997351.2:p.Ile148Leu
XM_006711318.2:c.241+2942A>C	XP_006711381.1:n.241+2942A>C
NM_001324080.1:c.442A>C	NP_001311009.1:p.Ile148Leu
NR_136691.1:n.1212A>C
XM_017001279.1:c.442A>C	XP_016856768.1:p.Ile148Leu
XM_017001280.1:c.442A>C	XP_016856769.1:p.Ile148Leu
XM_017001281.1:c.442A>C	XP_016856770.1:p.Ile148Leu
XM_017001282.1:c.442A>C	XP_016856771.1:p.Ile148Leu
XM_017001285.1:c.274+2942A>C	XP_016856774.1:n.274+2942A>C
NM_001324080.2:c.442A>C	NP_001311009.1:p.Ile148Leu
NM_207468.3:c.442A>C	NP_997351.2:p.Ile148Leu
NR_136691.2:n.1226A>C
NM_001394345.1:c.442A>C MANE Select	NP_001381274.1:p.Ile148Leu