Canonical Allele Identifier: CA5202543

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114270742T>C , CM000671.2:g.114270742T>C	GRCh38
NC_000009.11:g.117033022T>C , CM000671.1:g.117033022T>C	GRCh37
NC_000009.10:g.116072843T>C	NCBI36
NG_034260.1:g.120198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356083.8:c.3570T>C MANE Select	ENSP00000348385.3:p.Leu1190=
ENST00000356083.7:c.3570T>C	ENSP00000348385.3:p.Leu1190=
ENST00000477421.2:n.503T>C
ENST00000494090.6:c.2463T>C
NM_032888.3:c.3570T>C	NP_116277.2:p.Leu1190=
XM_006717308.2:c.3516T>C	XP_006717371.1:p.Leu1172=
XM_006717310.2:c.1251T>C	XP_006717373.1:p.Leu417=
XM_011519138.1:c.3564T>C	XP_011517440.1:p.Leu1188=
XM_011519139.1:c.3546T>C	XP_011517441.1:p.Leu1182=
XM_011519140.1:c.3516T>C	XP_011517442.1:p.Leu1172=
XM_011519141.1:c.3570T>C	XP_011517443.1:p.Leu1190=
XM_011519142.1:c.3570T>C	XP_011517444.1:p.Leu1190=
XM_011519143.1:c.3570T>C	XP_011517445.1:p.Leu1190=
XM_011519144.1:c.3570T>C	XP_011517446.1:p.Leu1190=
XM_011519145.1:c.1137T>C	XP_011517447.1:p.Leu379=
XR_929860.1:n.4046T>C
XR_929861.1:n.4047T>C
XR_929862.1:n.4055T>C
XR_929863.1:n.4001T>C
XM_006717310.3:c.1251T>C	XP_006717373.1:p.Leu417=
XM_011519138.2:c.3564T>C	XP_011517440.1:p.Leu1188=
XM_011519142.3:c.3570T>C	XP_011517444.1:p.Leu1190=
XM_011519143.2:c.3570T>C	XP_011517445.1:p.Leu1190=
XM_011519144.2:c.3570T>C	XP_011517446.1:p.Leu1190=
XM_011519145.3:c.1137T>C	XP_011517447.1:p.Leu379=
XM_017015239.1:c.3608T>C	XP_016870728.1:p.Leu1203Ser
XR_001746405.1:n.4048T>C
XR_929860.3:n.4047T>C
XR_929861.2:n.4048T>C
NM_032888.4:c.3570T>C MANE Select	NP_116277.2:p.Leu1190=