Canonical Allele Identifier: CA400213705

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50192653-G-A
• COSMIC: COSM1721723
• MyVariant Identifiers: chr17:g.48270014G>A (hg19) ; chr17:g.50192653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192653G>A , CM000679.2:g.50192653G>A	GRCh38
NC_000017.10:g.48270014G>A , CM000679.1:g.48270014G>A	GRCh37
NC_000017.9:g.45625013G>A	NCBI36
NG_007400.1:g.13987C>T , LRG_1:g.13987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1916C>T MANE Select	ENSP00000225964.6:p.Ser639Phe
ENST00000225964.9:c.1916C>T	ENSP00000225964.5:p.Ser639Phe
ENST00000476387.1:n.265C>T
NM_000088.3:c.1916C>T , LRG_1t1:c.1916C>T	NP_000079.2:p.Ser639Phe
XM_005257058.3:c.1916C>T	XP_005257115.2:p.Ser639Phe
XM_005257059.3:c.998C>T	XP_005257116.2:p.Ser333Phe
XM_011524341.1:c.1718C>T	XP_011522643.1:p.Ser573Phe
XM_005257058.4:c.1916C>T	XP_005257115.2:p.Ser639Phe
XM_005257059.4:c.998C>T	XP_005257116.2:p.Ser333Phe
NM_000088.4:c.1916C>T MANE Select	NP_000079.2:p.Ser639Phe