Canonical Allele Identifier: CA346531556

Gene: TTC27

Linked Data

• MyVariant Identifiers: chr2:g.32865426A>C (hg19) ; chr2:g.32640359A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640359A>C , CM000664.2:g.32640359A>C	GRCh38
NC_000002.11:g.32865426A>C , CM000664.1:g.32865426A>C	GRCh37
NC_000002.10:g.32718930A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.486A>C MANE Select	ENSP00000313953.4:p.Leu162Phe
ENST00000647819.1:c.486A>C	ENSP00000497009.1:p.Leu162Phe
ENST00000317907.8:c.486A>C	ENSP00000313953.4:p.Leu162Phe
ENST00000448773.5:c.336A>C	ENSP00000393327.1:p.Leu112Phe
ENST00000454690.1:c.88+11979A>C	ENSP00000392883.1:n.88+11979A>C
NM_001193509.1:c.336A>C	NP_001180438.1:p.Leu112Phe
NM_017735.4:c.486A>C	NP_060205.3:p.Leu162Phe
XM_005264416.1:c.486A>C	XP_005264473.1:p.Leu162Phe
XM_011532958.1:c.486A>C	XP_011531260.1:p.Leu162Phe
XM_005264416.2:c.486A>C	XP_005264473.1:p.Leu162Phe
XM_011532958.2:c.486A>C	XP_011531260.1:p.Leu162Phe
XR_002959314.1:n.744A>C
NM_017735.5:c.486A>C MANE Select	NP_060205.3:p.Leu162Phe
NM_001193509.2:c.336A>C	NP_001180438.1:p.Leu112Phe