Canonical Allele Identifier: CA8644600

Gene: COL1A1

Linked Data

• dbSNP Id: rs772297818
• ExAC: 17:48266200 G / A
• gnomAD v2: 17-48266200-G-A
• gnomAD v3: 17-50188839-G-A
• gnomAD v4: 17-50188839-G-A
• MyVariant Identifiers: chr17:g.48266200G>A (hg19) ; chr17:g.50188839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188839G>A , CM000679.2:g.50188839G>A	GRCh38
NC_000017.10:g.48266200G>A , CM000679.1:g.48266200G>A	GRCh37
NC_000017.9:g.45621199G>A	NCBI36
NG_007400.1:g.17801C>T , LRG_1:g.17801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3046-44C>T MANE Select	ENSP00000225964.6:n.3046-44C>T
ENST00000225964.9:c.3046-44C>T	ENSP00000225964.5:n.3046-44C>T
NM_000088.3:c.3046-44C>T , LRG_1t1:c.3046-44C>T	NP_000079.2:n.3046-44C>T
XM_005257058.3:c.2776-44C>T	XP_005257115.2:n.2776-44C>T
XM_005257059.3:c.2128-44C>T	XP_005257116.2:n.2128-44C>T
XM_011524341.1:c.2848-44C>T	XP_011522643.1:n.2848-44C>T
XM_005257058.4:c.2776-44C>T	XP_005257115.2:n.2776-44C>T
XM_005257059.4:c.2128-44C>T	XP_005257116.2:n.2128-44C>T
NM_000088.4:c.3046-44C>T MANE Select	NP_000079.2:n.3046-44C>T