Canonical Allele Identifier: CA400202958

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188741C>T , CM000679.2:g.50188741C>T	GRCh38
NC_000017.10:g.48266102C>T , CM000679.1:g.48266102C>T	GRCh37
NC_000017.9:g.45621101C>T	NCBI36
NG_007400.1:g.17899G>A , LRG_1:g.17899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3099+1G>A MANE Select	ENSP00000225964.6:n.3099+1G>A
ENST00000225964.9:c.3099+1G>A	ENSP00000225964.5:n.3099+1G>A
ENST00000511732.1:n.43+1G>A
NM_000088.3:c.3099+1G>A , LRG_1t1:c.3099+1G>A	NP_000079.2:n.3099+1G>A
XM_005257058.3:c.2829+1G>A	XP_005257115.2:n.2829+1G>A
XM_005257059.3:c.2181+1G>A	XP_005257116.2:n.2181+1G>A
XM_011524341.1:c.2901+1G>A	XP_011522643.1:n.2901+1G>A
XM_005257058.4:c.2829+1G>A	XP_005257115.2:n.2829+1G>A
XM_005257059.4:c.2181+1G>A	XP_005257116.2:n.2181+1G>A
NM_000088.4:c.3099+1G>A MANE Select	NP_000079.2:n.3099+1G>A