Canonical Allele Identifier: CA8645005

Gene: COL1A1

Linked Data

• dbSNP Id: rs760481269
• ExAC: 17:48269904 T / C
• gnomAD v2: 17-48269904-T-C
• gnomAD v3: 17-50192543-T-C
• gnomAD v4: 17-50192543-T-C
• MyVariant Identifiers: chr17:g.48269904T>C (hg19) ; chr17:g.50192543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192543T>C , CM000679.2:g.50192543T>C	GRCh38
NC_000017.10:g.48269904T>C , CM000679.1:g.48269904T>C	GRCh37
NC_000017.9:g.45624903T>C	NCBI36
NG_007400.1:g.14097A>G , LRG_1:g.14097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930-15A>G MANE Select	ENSP00000225964.6:n.1930-15A>G
ENST00000225964.9:c.1930-15A>G	ENSP00000225964.5:n.1930-15A>G
ENST00000476387.1:n.279-15A>G
NM_000088.3:c.1930-15A>G , LRG_1t1:c.1930-15A>G	NP_000079.2:n.1930-15A>G
XM_005257058.3:c.1930-15A>G	XP_005257115.2:n.1930-15A>G
XM_005257059.3:c.1012-15A>G	XP_005257116.2:n.1012-15A>G
XM_011524341.1:c.1732-15A>G	XP_011522643.1:n.1732-15A>G
XM_005257058.4:c.1930-15A>G	XP_005257115.2:n.1930-15A>G
XM_005257059.4:c.1012-15A>G	XP_005257116.2:n.1012-15A>G
NM_000088.4:c.1930-15A>G MANE Select	NP_000079.2:n.1930-15A>G