Canonical Allele Identifier: CA400215979

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194162-T-G
• MyVariant Identifiers: chr17:g.48271523T>G (hg19) ; chr17:g.50194162T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194162T>G , CM000679.2:g.50194162T>G	GRCh38
NC_000017.10:g.48271523T>G , CM000679.1:g.48271523T>G	GRCh37
NC_000017.9:g.45626522T>G	NCBI36
NG_007400.1:g.12478A>C , LRG_1:g.12478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1636A>C MANE Select	ENSP00000225964.6:p.Ser546Arg
ENST00000225964.9:c.1636A>C	ENSP00000225964.5:p.Ser546Arg
ENST00000463440.1:n.26A>C
ENST00000471344.1:n.580A>C
NM_000088.3:c.1636A>C , LRG_1t1:c.1636A>C	NP_000079.2:p.Ser546Arg
XM_005257058.3:c.1636A>C	XP_005257115.2:p.Ser546Arg
XM_005257059.3:c.958-1469A>C	XP_005257116.2:n.958-1469A>C
XM_011524341.1:c.1438A>C	XP_011522643.1:p.Ser480Arg
XM_005257058.4:c.1636A>C	XP_005257115.2:p.Ser546Arg
XM_005257059.4:c.958-1469A>C	XP_005257116.2:n.958-1469A>C
NM_000088.4:c.1636A>C MANE Select	NP_000079.2:p.Ser546Arg