Canonical Allele Identifier: CA291545198

Gene: COL1A1

Linked Data

• dbSNP Id: rs767261891
• gnomAD v3: 17-50194244-A-C
• gnomAD v4: 17-50194244-A-C
• MyVariant Identifiers: chr17:g.48271605A>C (hg19) ; chr17:g.50194244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194244A>C , CM000679.2:g.50194244A>C	GRCh38
NC_000017.10:g.48271605A>C , CM000679.1:g.48271605A>C	GRCh37
NC_000017.9:g.45626604A>C	NCBI36
NG_007400.1:g.12396T>G , LRG_1:g.12396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1615-61T>G MANE Select	ENSP00000225964.6:n.1615-61T>G
ENST00000225964.9:c.1615-61T>G	ENSP00000225964.5:n.1615-61T>G
ENST00000463440.1:n.5-61T>G
ENST00000471344.1:n.559-61T>G
NM_000088.3:c.1615-61T>G , LRG_1t1:c.1615-61T>G	NP_000079.2:n.1615-61T>G
XM_005257058.3:c.1615-61T>G	XP_005257115.2:n.1615-61T>G
XM_005257059.3:c.958-1551T>G	XP_005257116.2:n.958-1551T>G
XM_011524341.1:c.1417-61T>G	XP_011522643.1:n.1417-61T>G
XM_005257058.4:c.1615-61T>G	XP_005257115.2:n.1615-61T>G
XM_005257059.4:c.958-1551T>G	XP_005257116.2:n.958-1551T>G
NM_000088.4:c.1615-61T>G MANE Select	NP_000079.2:n.1615-61T>G