Canonical Allele Identifier: CA374597145

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114266610G>T , CM000671.2:g.114266610G>T	GRCh38
NC_000009.11:g.117028890G>T , CM000671.1:g.117028890G>T	GRCh37
NC_000009.10:g.116068711G>T	NCBI36
NG_034260.1:g.116066G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032888.4:c.3439G>T MANE Select	NP_116277.2:p.Gly1147Ter
ENST00000356083.8:c.3439G>T MANE Select	ENSP00000348385.3:p.Gly1147Ter
NM_032888.3:c.3439G>T	NP_116277.2:p.Gly1147Ter
ENST00000356083.7:c.3439G>T	ENSP00000348385.3:p.Gly1147Ter
ENST00000494090.6:c.2332G>T
XM_006717308.2:c.3385G>T	XP_006717371.1:p.Gly1129Ter
XM_006717310.2:c.1120G>T	XP_006717373.1:p.Gly374Ter
XM_006717310.3:c.1120G>T	XP_006717373.1:p.Gly374Ter
XM_011519138.1:c.3433G>T	XP_011517440.1:p.Gly1145Ter
XM_011519138.2:c.3433G>T	XP_011517440.1:p.Gly1145Ter
XM_011519139.1:c.3415G>T	XP_011517441.1:p.Gly1139Ter
XM_011519140.1:c.3385G>T	XP_011517442.1:p.Gly1129Ter
XM_011519141.1:c.3439G>T	XP_011517443.1:p.Gly1147Ter
XM_011519142.1:c.3439G>T	XP_011517444.1:p.Gly1147Ter
XM_011519142.3:c.3439G>T	XP_011517444.1:p.Gly1147Ter
XM_011519143.1:c.3439G>T	XP_011517445.1:p.Gly1147Ter
XM_011519143.2:c.3439G>T	XP_011517445.1:p.Gly1147Ter
XM_011519144.1:c.3439G>T	XP_011517446.1:p.Gly1147Ter
XM_011519144.2:c.3439G>T	XP_011517446.1:p.Gly1147Ter
XM_011519145.1:c.1006G>T	XP_011517447.1:p.Gly336Ter
XM_011519145.3:c.1006G>T	XP_011517447.1:p.Gly336Ter
XM_017015239.1:c.3439G>T	XP_016870728.1:p.Gly1147Ter
XR_001746405.1:n.3917G>T
XR_929860.1:n.3915G>T
XR_929860.3:n.3916G>T
XR_929861.1:n.3916G>T
XR_929861.2:n.3917G>T
XR_929862.1:n.3924G>T
XR_929863.1:n.3870G>T