Canonical Allele Identifier: CA346531561

Gene: TTC27

Linked Data

• MyVariant Identifiers: chr2:g.32865428T>C (hg19) ; chr2:g.32640361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640361T>C , CM000664.2:g.32640361T>C	GRCh38
NC_000002.11:g.32865428T>C , CM000664.1:g.32865428T>C	GRCh37
NC_000002.10:g.32718932T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.488T>C MANE Select	ENSP00000313953.4:p.Leu163Ser
ENST00000647819.1:c.488T>C	ENSP00000497009.1:p.Leu163Ser
ENST00000317907.8:c.488T>C	ENSP00000313953.4:p.Leu163Ser
ENST00000448773.5:c.338T>C	ENSP00000393327.1:p.Leu113Ser
ENST00000454690.1:c.88+11981T>C	ENSP00000392883.1:n.88+11981T>C
NM_001193509.1:c.338T>C	NP_001180438.1:p.Leu113Ser
NM_017735.4:c.488T>C	NP_060205.3:p.Leu163Ser
XM_005264416.1:c.488T>C	XP_005264473.1:p.Leu163Ser
XM_011532958.1:c.488T>C	XP_011531260.1:p.Leu163Ser
XM_005264416.2:c.488T>C	XP_005264473.1:p.Leu163Ser
XM_011532958.2:c.488T>C	XP_011531260.1:p.Leu163Ser
XR_002959314.1:n.746T>C
NM_017735.5:c.488T>C MANE Select	NP_060205.3:p.Leu163Ser
NM_001193509.2:c.338T>C	NP_001180438.1:p.Leu113Ser