Canonical Allele Identifier: CA8644498

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188065A>G , CM000679.2:g.50188065A>G	GRCh38
NC_000017.10:g.48265426A>G , CM000679.1:g.48265426A>G	GRCh37
NC_000017.9:g.45620425A>G	NCBI36
NG_007400.1:g.18575T>C , LRG_1:g.18575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3261+31T>C MANE Select	ENSP00000225964.6:n.3261+31T>C
ENST00000225964.9:c.3261+31T>C	ENSP00000225964.5:n.3261+31T>C
ENST00000486572.1:n.459+31T>C
ENST00000511732.1:n.616T>C
NM_000088.3:c.3261+31T>C , LRG_1t1:c.3261+31T>C	NP_000079.2:n.3261+31T>C
XM_005257058.3:c.2991+31T>C	XP_005257115.2:n.2991+31T>C
XM_005257059.3:c.2343+31T>C	XP_005257116.2:n.2343+31T>C
XM_011524341.1:c.3063+31T>C	XP_011522643.1:n.3063+31T>C
XM_005257058.4:c.2991+31T>C	XP_005257115.2:n.2991+31T>C
XM_005257059.4:c.2343+31T>C	XP_005257116.2:n.2343+31T>C
NM_000088.4:c.3261+31T>C MANE Select	NP_000079.2:n.3261+31T>C