Canonical Allele Identifier: CA8644495

Gene: COL1A1

Linked Data

• dbSNP Id: rs761431697
• ExAC: 17:48265416 G / A
• gnomAD v3: 17-50188055-G-A
• gnomAD v4: 17-50188055-G-A
• COSMIC: COSN26438215
• MyVariant Identifiers: chr17:g.48265416G>A (hg19) ; chr17:g.50188055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188055G>A , CM000679.2:g.50188055G>A	GRCh38
NC_000017.10:g.48265416G>A , CM000679.1:g.48265416G>A	GRCh37
NC_000017.9:g.45620415G>A	NCBI36
NG_007400.1:g.18585C>T , LRG_1:g.18585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3261+41C>T MANE Select	ENSP00000225964.6:n.3261+41C>T
ENST00000225964.9:c.3261+41C>T	ENSP00000225964.5:n.3261+41C>T
ENST00000486572.1:n.459+41C>T
ENST00000511732.1:n.626C>T
NM_000088.3:c.3261+41C>T , LRG_1t1:c.3261+41C>T	NP_000079.2:n.3261+41C>T
XM_005257058.3:c.2991+41C>T	XP_005257115.2:n.2991+41C>T
XM_005257059.3:c.2343+41C>T	XP_005257116.2:n.2343+41C>T
XM_011524341.1:c.3063+41C>T	XP_011522643.1:n.3063+41C>T
XM_005257058.4:c.2991+41C>T	XP_005257115.2:n.2991+41C>T
XM_005257059.4:c.2343+41C>T	XP_005257116.2:n.2343+41C>T
NM_000088.4:c.3261+41C>T MANE Select	NP_000079.2:n.3261+41C>T