Canonical Allele Identifier: CA300004966

Gene: CXXC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50282606C>A , CM000680.2:g.50282606C>A	GRCh38
NC_000018.9:g.47808976C>A , CM000680.1:g.47808976C>A	GRCh37
NC_000018.8:g.46062974C>A	NCBI36
NG_029505.1:g.4169G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014593.4:c.1958G>T MANE Select	NP_055408.2:p.Ser653Ile
ENST00000285106.11:c.1958G>T MANE Select	ENSP00000285106.6:p.Ser653Ile
NM_001101654.1:c.1970G>T	NP_001095124.1:p.Ser657Ile
NM_001101654.2:c.1970G>T	NP_001095124.1:p.Ser657Ile
NM_014593.3:c.1958G>T	NP_055408.2:p.Ser653Ile
ENST00000285106.10:c.1958G>T	ENSP00000285106.6:p.Ser653Ile
ENST00000412036.6:c.1970G>T	ENSP00000390475.1:p.Ser657Ile
ENST00000587170.1:n.450G>T
ENST00000587342.1:n.729G>T
ENST00000589548.6:c.*79G>T	ENSP00000468038.2:n.*79G>T
ENST00000589940.5:c.*79G>T	ENSP00000467634.1:n.*79G>T
ENST00000590901.5:n.2305G>T
ENST00000673786.1:c.1931G>T	ENSP00000501104.1:p.Ser644Ile
XM_011525940.1:c.1970G>T	XP_011524242.1:p.Ser657Ile
XM_011525940.2:c.1970G>T	XP_011524242.1:p.Ser657Ile
XM_011525941.1:c.1595G>T	XP_011524243.1:p.Ser532Ile
XM_011525941.2:c.1595G>T	XP_011524243.1:p.Ser532Ile
XM_017025718.2:c.1958G>T	XP_016881207.1:p.Ser653Ile
XM_017025719.1:c.1583G>T	XP_016881208.1:p.Ser528Ile