Canonical Allele Identifier: CA2638710155

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2753272
• ClinVar RCV Id: RCV003516962
• gnomAD v4: 17-50194053-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194053A>G , CM000679.2:g.50194053A>G	GRCh38
NC_000017.10:g.48271414A>G , CM000679.1:g.48271414A>G	GRCh37
NC_000017.9:g.45626413A>G	NCBI36
NG_007400.1:g.12587T>C , LRG_1:g.12587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1669-12T>C MANE Select	ENSP00000225964.6:n.1669-12T>C
ENST00000225964.9:c.1669-12T>C	ENSP00000225964.5:n.1669-12T>C
ENST00000463440.1:n.59-12T>C
ENST00000471344.1:n.689T>C
ENST00000476387.1:n.6T>C
NM_000088.3:c.1669-12T>C , LRG_1t1:c.1669-12T>C	NP_000079.2:n.1669-12T>C
XM_005257058.3:c.1669-12T>C	XP_005257115.2:n.1669-12T>C
XM_005257059.3:c.958-1360T>C	XP_005257116.2:n.958-1360T>C
XM_011524341.1:c.1471-12T>C	XP_011522643.1:n.1471-12T>C
XM_005257058.4:c.1669-12T>C	XP_005257115.2:n.1669-12T>C
XM_005257059.4:c.958-1360T>C	XP_005257116.2:n.958-1360T>C
NM_000088.4:c.1669-12T>C MANE Select	NP_000079.2:n.1669-12T>C