Canonical Allele Identifier: CA291543009

Gene: COL1A1

Linked Data

• dbSNP Id: rs546142513
• MyVariant Identifiers: chr17:g.48265398G>A (hg19) ; chr17:g.50188037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188037G>A , CM000679.2:g.50188037G>A	GRCh38
NC_000017.10:g.48265398G>A , CM000679.1:g.48265398G>A	GRCh37
NC_000017.9:g.45620397G>A	NCBI36
NG_007400.1:g.18603C>T , LRG_1:g.18603C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3262-54C>T MANE Select	ENSP00000225964.6:n.3262-54C>T
ENST00000225964.9:c.3262-54C>T	ENSP00000225964.5:n.3262-54C>T
ENST00000486572.1:n.460-54C>T
ENST00000511732.1:n.644C>T
NM_000088.3:c.3262-54C>T , LRG_1t1:c.3262-54C>T	NP_000079.2:n.3262-54C>T
XM_005257058.3:c.2992-54C>T	XP_005257115.2:n.2992-54C>T
XM_005257059.3:c.2344-54C>T	XP_005257116.2:n.2344-54C>T
XM_011524341.1:c.3064-54C>T	XP_011522643.1:n.3064-54C>T
XM_005257058.4:c.2992-54C>T	XP_005257115.2:n.2992-54C>T
XM_005257059.4:c.2344-54C>T	XP_005257116.2:n.2344-54C>T
NM_000088.4:c.3262-54C>T MANE Select	NP_000079.2:n.3262-54C>T