Canonical Allele Identifier: CA400220979

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50195927-G-A
• gnomAD v4: 17-50195927-G-A
• MyVariant Identifiers: chr17:g.48273288G>A (hg19) ; chr17:g.50195927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195927G>A , CM000679.2:g.50195927G>A	GRCh38
NC_000017.10:g.48273288G>A , CM000679.1:g.48273288G>A	GRCh37
NC_000017.9:g.45628287G>A	NCBI36
NG_007400.1:g.10713C>T , LRG_1:g.10713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1052C>T MANE Select	ENSP00000225964.6:p.Ala351Val
ENST00000225964.9:c.1052C>T	ENSP00000225964.5:p.Ala351Val
NM_000088.3:c.1052C>T , LRG_1t1:c.1052C>T	NP_000079.2:p.Ala351Val
XM_005257058.3:c.1052C>T	XP_005257115.2:p.Ala351Val
XM_005257059.3:c.957+387C>T	XP_005257116.2:n.957+387C>T
XM_011524341.1:c.957+387C>T	XP_011522643.1:n.957+387C>T
XM_005257058.4:c.1052C>T	XP_005257115.2:p.Ala351Val
XM_005257059.4:c.957+387C>T	XP_005257116.2:n.957+387C>T
NM_000088.4:c.1052C>T MANE Select	NP_000079.2:p.Ala351Val