Canonical Allele Identifier: CA626689528

Gene: COL1A1

Linked Data

• dbSNP Id: rs1320865662
• gnomAD v2: 17-48271197-T-A
• gnomAD v3: 17-50193836-T-A
• gnomAD v4: 17-50193836-T-A
• MyVariant Identifiers: chr17:g.48271197T>A (hg19) ; chr17:g.50193836T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193836T>A , CM000679.2:g.50193836T>A	GRCh38
NC_000017.10:g.48271197T>A , CM000679.1:g.48271197T>A	GRCh37
NC_000017.9:g.45626196T>A	NCBI36
NG_007400.1:g.12804A>T , LRG_1:g.12804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+107A>T MANE Select	ENSP00000225964.6:n.1767+107A>T
ENST00000225964.9:c.1767+107A>T	ENSP00000225964.5:n.1767+107A>T
ENST00000463440.1:n.264A>T
ENST00000471344.1:n.906A>T
ENST00000476387.1:n.116+107A>T
NM_000088.3:c.1767+107A>T , LRG_1t1:c.1767+107A>T	NP_000079.2:n.1767+107A>T
XM_005257058.3:c.1767+107A>T	XP_005257115.2:n.1767+107A>T
XM_005257059.3:c.958-1143A>T	XP_005257116.2:n.958-1143A>T
XM_011524341.1:c.1569+107A>T	XP_011522643.1:n.1569+107A>T
XM_005257058.4:c.1767+107A>T	XP_005257115.2:n.1767+107A>T
XM_005257059.4:c.958-1143A>T	XP_005257116.2:n.958-1143A>T
NM_000088.4:c.1767+107A>T MANE Select	NP_000079.2:n.1767+107A>T