Canonical Allele Identifier: CA8644570

Gene: COL1A1

Linked Data

• dbSNP Id: rs141805075
• ExAC: 17:48266033 C / T
• gnomAD v2: 17-48266033-C-T
• gnomAD v3: 17-50188672-C-T
• gnomAD v4: 17-50188672-C-T
• MyVariant Identifiers: chr17:g.48266033C>T (hg19) ; chr17:g.50188672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188672C>T , CM000679.2:g.50188672C>T	GRCh38
NC_000017.10:g.48266033C>T , CM000679.1:g.48266033C>T	GRCh37
NC_000017.9:g.45621032C>T	NCBI36
NG_007400.1:g.17968G>A , LRG_1:g.17968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3100-35G>A MANE Select	ENSP00000225964.6:n.3100-35G>A
ENST00000225964.9:c.3100-35G>A	ENSP00000225964.5:n.3100-35G>A
ENST00000511732.1:n.44-35G>A
NM_000088.3:c.3100-35G>A , LRG_1t1:c.3100-35G>A	NP_000079.2:n.3100-35G>A
XM_005257058.3:c.2830-35G>A	XP_005257115.2:n.2830-35G>A
XM_005257059.3:c.2182-35G>A	XP_005257116.2:n.2182-35G>A
XM_011524341.1:c.2902-35G>A	XP_011522643.1:n.2902-35G>A
XM_005257058.4:c.2830-35G>A	XP_005257115.2:n.2830-35G>A
XM_005257059.4:c.2182-35G>A	XP_005257116.2:n.2182-35G>A
NM_000088.4:c.3100-35G>A MANE Select	NP_000079.2:n.3100-35G>A