Canonical Allele Identifier: CA12968680

Gene: COL27A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114287611T>G , CM000671.2:g.114287611T>G	GRCh38
NC_000009.11:g.117049891T>G , CM000671.1:g.117049891T>G	GRCh37
NC_000009.10:g.116089712T>G	NCBI36
NG_034260.1:g.137067T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356083.8:c.3988-844T>G MANE Select	ENSP00000348385.3:n.3988-844T>G
ENST00000356083.7:c.3988-844T>G	ENSP00000348385.3:n.3988-844T>G
ENST00000494090.6:c.2881-844T>G
NM_032888.3:c.3988-844T>G	NP_116277.2:n.3988-844T>G
XM_006717308.2:c.3934-844T>G	XP_006717371.1:n.3934-844T>G
XM_006717310.2:c.1669-844T>G	XP_006717373.1:n.1669-844T>G
XM_011519138.1:c.3982-844T>G	XP_011517440.1:n.3982-844T>G
XM_011519139.1:c.3964-844T>G	XP_011517441.1:n.3964-844T>G
XM_011519140.1:c.3934-844T>G	XP_011517442.1:n.3934-844T>G
XM_011519141.1:c.3988-844T>G	XP_011517443.1:n.3988-844T>G
XM_011519143.1:c.3988-498T>G	XP_011517445.1:n.3988-498T>G
XM_011519144.1:c.3988-501T>G	XP_011517446.1:n.3988-501T>G
XM_011519145.1:c.1555-844T>G	XP_011517447.1:n.1555-844T>G
XR_929860.1:n.4464-844T>G
XR_929861.1:n.4465-844T>G
XM_006717310.3:c.1669-844T>G	XP_006717373.1:n.1669-844T>G
XM_011519138.2:c.3982-844T>G	XP_011517440.1:n.3982-844T>G
XM_011519143.2:c.3988-498T>G	XP_011517445.1:n.3988-498T>G
XM_011519144.2:c.3988-501T>G	XP_011517446.1:n.3988-501T>G
XM_011519145.3:c.1555-844T>G	XP_011517447.1:n.1555-844T>G
XR_001746405.1:n.4466-844T>G
XR_929860.3:n.4465-844T>G
XR_929861.2:n.4466-844T>G
NM_032888.4:c.3988-844T>G MANE Select	NP_116277.2:n.3988-844T>G