Canonical Allele Identifier: CA202912

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188114A>G , CM000679.2:g.50188114A>G	GRCh38
NC_000017.10:g.48265475A>G , CM000679.1:g.48265475A>G	GRCh37
NC_000017.9:g.45620474A>G	NCBI36
NG_007400.1:g.18526T>C , LRG_1:g.18526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3243T>C MANE Select	ENSP00000225964.6:p.Val1081=
ENST00000225964.9:c.3243T>C	ENSP00000225964.5:p.Val1081=
ENST00000486572.1:n.441T>C
ENST00000511732.1:n.567T>C
NM_000088.3:c.3243T>C , LRG_1t1:c.3243T>C	NP_000079.2:p.Val1081=
XM_005257058.3:c.2973T>C	XP_005257115.2:p.Val991=
XM_005257059.3:c.2325T>C	XP_005257116.2:p.Val775=
XM_011524341.1:c.3045T>C	XP_011522643.1:p.Val1015=
XM_005257058.4:c.2973T>C	XP_005257115.2:p.Val991=
XM_005257059.4:c.2325T>C	XP_005257116.2:p.Val775=
NM_000088.4:c.3243T>C MANE Select	NP_000079.2:p.Val1081=