Canonical Allele Identifier: CA475860958

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146570G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435524G>A , CM000673.2:g.71435524G>A	GRCh38
NC_000011.9:g.71146570G>A , CM000673.1:g.71146570G>A	GRCh37
NC_000011.8:g.70824218G>A	NCBI36
NG_012655.2:g.17908C>T , LRG_340:g.17908C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1279C>T	ENSP00000435707.3:p.Leu427=
ENST00000526780.6:c.1279C>T	ENSP00000435668.2:p.Leu427=
ENST00000527316.6:c.1105C>T	ENSP00000435047.2:p.Leu369=
ENST00000682708.1:c.1330C>T	ENSP00000506866.1:p.Leu444=
ENST00000683287.1:c.1315C>T	ENSP00000507607.1:p.Leu439=
ENST00000683714.1:c.*42C>T	ENSP00000508207.1:n.*42C>T
ENST00000684396.1:n.1319C>T
ENST00000685320.1:c.694C>T	ENSP00000509319.1:p.Leu232=
ENST00000690257.1:c.1183C>T	ENSP00000510750.1:p.Leu395=
ENST00000355527.8:c.1279C>T MANE Select	ENSP00000347717.4:p.Leu427=
ENST00000355527.7:c.1279C>T	ENSP00000347717.3:p.Leu427=
ENST00000407721.6:c.1279C>T	ENSP00000384739.2:p.Leu427=
ENST00000525137.1:c.780C>T	ENSP00000435956.1:n.780C>T
ENST00000533800.5:c.529C>T	ENSP00000435011.1:p.Leu177=
ENST00000534795.5:c.319+2288C>T
NM_001163817.1:c.1279C>T	NP_001157289.1:p.Leu427=
NM_001360.2:c.1279C>T , LRG_340t1:c.1279C>T	NP_001351.2:p.Leu427=
XM_011544777.1:c.*42C>T	XP_011543079.1:n.*42C>T
XM_011544777.2:c.*42C>T	XP_011543079.1:n.*42C>T
NM_001163817.2:c.1279C>T	NP_001157289.1:p.Leu427=
NM_001360.3:c.1279C>T MANE Select	NP_001351.2:p.Leu427=