Canonical Allele Identifier: CA381696596

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71155183C>A (hg19) ; chr11:g.71444137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444137C>A , CM000673.2:g.71444137C>A	GRCh38
NC_000011.9:g.71155183C>A , CM000673.1:g.71155183C>A	GRCh37
NC_000011.8:g.70832831C>A	NCBI36
NG_012655.2:g.9295G>T , LRG_340:g.9295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.177G>T	ENSP00000435707.3:p.Met59Ile
ENST00000526780.6:c.177G>T	ENSP00000435668.2:p.Met59Ile
ENST00000527316.6:c.3G>T	ENSP00000435047.2:p.Met1Ile
ENST00000529990.6:c.3G>T	ENSP00000435058.2:p.Met1Ile
ENST00000682708.1:c.177G>T	ENSP00000506866.1:p.Met59Ile
ENST00000682880.1:c.177G>T	ENSP00000507520.1:p.Met59Ile
ENST00000683287.1:c.177G>T	ENSP00000507607.1:p.Met59Ile
ENST00000683714.1:c.177G>T	ENSP00000508207.1:p.Met59Ile
ENST00000683874.1:n.454G>T
ENST00000685320.1:c.-333-76G>T	ENSP00000509319.1:n.-333-76G>T
ENST00000690257.1:c.99-18G>T	ENSP00000510750.1:n.99-18G>T
ENST00000355527.8:c.177G>T MANE Select	ENSP00000347717.4:p.Met59Ile
ENST00000355527.7:c.177G>T	ENSP00000347717.3:p.Met59Ile
ENST00000407721.6:c.177G>T	ENSP00000384739.2:p.Met59Ile
ENST00000525346.5:c.177G>T	ENSP00000435707.2:p.Met59Ile
ENST00000526780.5:c.177G>T	ENSP00000435668.1:p.Met59Ile
ENST00000527316.5:c.99-18G>T	ENSP00000435047.1:n.99-18G>T
ENST00000527452.1:c.177G>T	ENSP00000436007.1:p.Met59Ile
ENST00000529990.5:c.117G>T	ENSP00000435058.1:p.Met39Ile
ENST00000531364.5:c.177G>T	ENSP00000432589.1:p.Met59Ile
NM_001163817.1:c.177G>T	NP_001157289.1:p.Met59Ile
NM_001360.2:c.177G>T , LRG_340t1:c.177G>T	NP_001351.2:p.Met59Ile
XM_011544777.1:c.177G>T	XP_011543079.1:p.Met59Ile
XM_011544777.2:c.177G>T	XP_011543079.1:p.Met59Ile
NM_001163817.2:c.177G>T	NP_001157289.1:p.Met59Ile
NM_001360.3:c.177G>T MANE Select	NP_001351.2:p.Met59Ile