Canonical Allele Identifier: CA374593676

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114168771C>T , CM000671.2:g.114168771C>T	GRCh38
NC_000009.11:g.116931051C>T , CM000671.1:g.116931051C>T	GRCh37
NC_000009.10:g.115970872C>T	NCBI36
NG_034260.1:g.18227C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.1216C>T MANE Select	NP_116277.2:p.Gln406Ter
ENST00000356083.8:c.1216C>T MANE Select	ENSP00000348385.3:p.Gln406Ter
NM_032888.3:c.1216C>T	NP_116277.2:p.Gln406Ter
ENST00000356083.7:c.1216C>T	ENSP00000348385.3:p.Gln406Ter
ENST00000451716.5:c.1057C>T	ENSP00000391328.1:p.Gln353Ter
ENST00000494090.6:c.164C>T
XM_006717308.2:c.1216C>T	XP_006717371.1:p.Gln406Ter
XM_011519138.1:c.1210C>T	XP_011517440.1:p.Gln404Ter
XM_011519138.2:c.1210C>T	XP_011517440.1:p.Gln404Ter
XM_011519139.1:c.1192C>T	XP_011517441.1:p.Gln398Ter
XM_011519140.1:c.1216C>T	XP_011517442.1:p.Gln406Ter
XM_011519141.1:c.1216C>T	XP_011517443.1:p.Gln406Ter
XM_011519142.1:c.1216C>T	XP_011517444.1:p.Gln406Ter
XM_011519142.3:c.1216C>T	XP_011517444.1:p.Gln406Ter
XM_011519143.1:c.1216C>T	XP_011517445.1:p.Gln406Ter
XM_011519143.2:c.1216C>T	XP_011517445.1:p.Gln406Ter
XM_011519144.1:c.1216C>T	XP_011517446.1:p.Gln406Ter
XM_011519144.2:c.1216C>T	XP_011517446.1:p.Gln406Ter
XM_017015239.1:c.1216C>T	XP_016870728.1:p.Gln406Ter
XR_001746405.1:n.1694C>T
XR_929860.1:n.1692C>T
XR_929860.3:n.1693C>T
XR_929861.1:n.1693C>T
XR_929861.2:n.1694C>T
XR_929862.1:n.1694C>T
XR_929863.1:n.1694C>T