Canonical Allele Identifier: CA8644197

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1633846
• ClinVar RCV Id: RCV002142738
• dbSNP Id: rs756459768
• ExAC: 17:48263023 G / A
• gnomAD v2: 17-48263023-G-A
• MyVariant Identifiers: chr17:g.48263023G>A (hg19) ; chr17:g.50185662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185662G>A , CM000679.2:g.50185662G>A	GRCh38
NC_000017.10:g.48263023G>A , CM000679.1:g.48263023G>A	GRCh37
NC_000017.9:g.45618022G>A	NCBI36
NG_007400.1:g.20978C>T , LRG_1:g.20978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-14C>T MANE Select	ENSP00000225964.6:n.4249-14C>T
ENST00000225964.9:c.4249-14C>T	ENSP00000225964.5:n.4249-14C>T
NM_000088.3:c.4249-14C>T , LRG_1t1:c.4249-14C>T	NP_000079.2:n.4249-14C>T
XM_005257058.3:c.3979-14C>T	XP_005257115.2:n.3979-14C>T
XM_005257059.3:c.3331-14C>T	XP_005257116.2:n.3331-14C>T
XM_011524341.1:c.4051-14C>T	XP_011522643.1:n.4051-14C>T
XM_005257058.4:c.3979-14C>T	XP_005257115.2:n.3979-14C>T
XM_005257059.4:c.3331-14C>T	XP_005257116.2:n.3331-14C>T
NM_000088.4:c.4249-14C>T MANE Select	NP_000079.2:n.4249-14C>T