Canonical Allele Identifier: CA291543008

Gene: COL1A1

Linked Data

• dbSNP Id: rs909440362
• gnomAD v4: 17-50188031-T-C
• MyVariant Identifiers: chr17:g.48265392T>C (hg19) ; chr17:g.50188031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188031T>C , CM000679.2:g.50188031T>C	GRCh38
NC_000017.10:g.48265392T>C , CM000679.1:g.48265392T>C	GRCh37
NC_000017.9:g.45620391T>C	NCBI36
NG_007400.1:g.18609A>G , LRG_1:g.18609A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3262-48A>G MANE Select	ENSP00000225964.6:n.3262-48A>G
ENST00000225964.9:c.3262-48A>G	ENSP00000225964.5:n.3262-48A>G
ENST00000486572.1:n.460-48A>G
ENST00000511732.1:n.650A>G
NM_000088.3:c.3262-48A>G , LRG_1t1:c.3262-48A>G	NP_000079.2:n.3262-48A>G
XM_005257058.3:c.2992-48A>G	XP_005257115.2:n.2992-48A>G
XM_005257059.3:c.2344-48A>G	XP_005257116.2:n.2344-48A>G
XM_011524341.1:c.3064-48A>G	XP_011522643.1:n.3064-48A>G
XM_005257058.4:c.2992-48A>G	XP_005257115.2:n.2992-48A>G
XM_005257059.4:c.2344-48A>G	XP_005257116.2:n.2344-48A>G
NM_000088.4:c.3262-48A>G MANE Select	NP_000079.2:n.3262-48A>G